PMID-sentid Pub_year Sent_text compound_name comp_offset prot_official_name organism prot_offset 7046992-3 1982 Severe and persistent metabolic acidosis and hyperglycemia, despite large doses of insulin, were observed in this infant, who excreted large amounts of methylmalonic acid. Methylmalonic Acid 152-170 insulin Homo sapiens 83-90 2795894-0 1989 [Urinary methylmalonic acid excretion and clinical features in megaloblastic anemia due to vitamin B12 deficiency]. Methylmalonic Acid 9-27 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 99-102 2795894-1 1989 Urinary methylmalonic acid (MMA) excretion in megaloblastic anemia due to vitamin B12 (B12) deficiency was studied using a colorimetric method. Methylmalonic Acid 8-26 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 82-85 2795894-1 1989 Urinary methylmalonic acid (MMA) excretion in megaloblastic anemia due to vitamin B12 (B12) deficiency was studied using a colorimetric method. Methylmalonic Acid 8-26 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 87-90 2795894-1 1989 Urinary methylmalonic acid (MMA) excretion in megaloblastic anemia due to vitamin B12 (B12) deficiency was studied using a colorimetric method. Methylmalonic Acid 28-31 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 82-85 2795894-1 1989 Urinary methylmalonic acid (MMA) excretion in megaloblastic anemia due to vitamin B12 (B12) deficiency was studied using a colorimetric method. Methylmalonic Acid 28-31 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 87-90 2795894-2 1989 Average MMA excretion in 20 patients with untreated B12 deficiency was 164 mg/day, whereas it increased to 518 mg/day following oral administration of 10 g L-valine. Methylmalonic Acid 8-11 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 52-55 3611958-0 1987 New urinary methylmalonic acid test is a sensitive indicator of cobalamin (vitamin B12) deficiency: a solution for a major unrecognized medical problem. Methylmalonic Acid 12-30 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 83-86 4074667-7 1985 The photoinhibition of BDH in the presence of N3-NAD was prevented nearly completely by addition of NADH, NAD plus beta-hydroxybutyrate, or NAD plus 2-methylmalonate and partially by addition of NAD. Methylmalonic Acid 149-165 3-hydroxybutyrate dehydrogenase 1 Homo sapiens 23-26 656065-2 1978 The disturbance in 2-methylmalonate metabolism resulting in its increased urinary excretion observed in vitamin E deficiency is not caused by increased formation of methylmalonate from propionate as is evident from the activity of the enzyme propionyl-CoA carboxylase (EC 6.4.1.3), but can be traced to an impairment in the conversion of methylmalonate into succinate by the vitamin B12-requiring enzyme, methylmalonyl-CoA mutase (EC 5.4.99.2) in rat liver. Methylmalonic Acid 19-35 methylmalonyl-CoA mutase Rattus norvegicus 405-429 6101617-2 1980 In addition, deficient animals excreted some 15 times as much methylmalonic acid as controls indicating impaired functioning of the vitamin B-12-dependent enzyme, methylmalonyl CoA mutase (EC 5.4.99.2). Methylmalonic Acid 62-80 methylmalonyl-CoA mutase Rattus norvegicus 163-187 31740360-2 2020 High serum levels of methylmalonic acid (MMA) have been identified in several studies as an early indicator of vitamin B12 deficiency. Methylmalonic Acid 21-39 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 119-122 239344-3 1975 Treatment during the last nine weeks of gestation with large doses of vitamin B12 given to the mother reversed the increasing maternal excretion of methylmalonic acid, which was 23 mug per milligram of creatinine at 31 weeks" gestation. Methylmalonic Acid 148-166 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 78-81 32754920-10 2021 Methylmalonic acid (MMA) levels in urine and plasma were significantly lower in cblA. Methylmalonic Acid 0-18 metabolism of cobalamin associated A Homo sapiens 80-84 32754920-10 2021 Methylmalonic acid (MMA) levels in urine and plasma were significantly lower in cblA. Methylmalonic Acid 20-23 metabolism of cobalamin associated A Homo sapiens 80-84 34046142-5 2021 Urinary concentrations of methylmalonic acid and homocysteine are characteristically elevated in vitamin B12 deficiency. Methylmalonic Acid 26-44 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 105-108 33515116-2 2021 Variants in the MMACHC gene cause accumulation of methylmalonic acid and homocysteine along with decreased methionine synthesis. Methylmalonic Acid 50-68 metabolism of cobalamin associated C Homo sapiens 16-22 32470975-9 2020 On multiple variable regression analysis after adjusting for treatment group, intrauterine growth restriction, and home environment, P300 amplitude in children was significantly higher in the lowest tertile of third-trimester maternal methylmalonic acid (MMA) concentrations (beta = 3034.04; 95% CI: 923.24, 5144.83) compared with the highest MMA tertile (beta = 1612.12; 95% CI: -258.86, 3483.10, P = 0.005). Methylmalonic Acid 235-253 E1A binding protein p300 Homo sapiens 133-137 31740360-2 2020 High serum levels of methylmalonic acid (MMA) have been identified in several studies as an early indicator of vitamin B12 deficiency. Methylmalonic Acid 41-44 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 119-122 31740360-15 2020 Correlation analysis revealed significantly negative correlation between MMA and B12 levels only in patients without comorbidities. Methylmalonic Acid 73-76 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 81-84 31740360-16 2020 CONCLUSION: HF patients have elevated MMA levels, independently of age, gender, HF category or comorbidities, possibly indicating subclinical vitamin-B12 deficiency. Methylmalonic Acid 38-41 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 150-153 31805132-7 2019 RESULTS: Treatment with a PPARalpha agonist was associated with increased plasma concentrations of most biomarkers, with the most pronounced differences observed for betaine, dimethylglycine, glycine, nicotinamide, methylnicotinamide, pyridoxal and methylmalonic acid. Methylmalonic Acid 249-267 peroxisome proliferator activated receptor alpha Rattus norvegicus 26-35 31473512-8 2019 Women with genetic variants in choline dehydrogenase (CHDH) and betaine-homocysteine S-methyltransferase (BHMT) had higher serum MMA concentrations (~31%, P=.03) and lower serum holotranscobalamin concentrations (~34%, P=.03), respectively. Methylmalonic Acid 129-132 choline dehydrogenase Homo sapiens 31-52 31471907-10 2019 CONCLUSION: Taken together, these findings suggest that participants with lower vitamin B12 and higher MMA levels that considered as lower functional activity of B12 had higher odds of migraine. Methylmalonic Acid 103-106 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 162-165 31473512-8 2019 Women with genetic variants in choline dehydrogenase (CHDH) and betaine-homocysteine S-methyltransferase (BHMT) had higher serum MMA concentrations (~31%, P=.03) and lower serum holotranscobalamin concentrations (~34%, P=.03), respectively. Methylmalonic Acid 129-132 choline dehydrogenase Homo sapiens 54-58 31473512-8 2019 Women with genetic variants in choline dehydrogenase (CHDH) and betaine-homocysteine S-methyltransferase (BHMT) had higher serum MMA concentrations (~31%, P=.03) and lower serum holotranscobalamin concentrations (~34%, P=.03), respectively. Methylmalonic Acid 129-132 betaine--homocysteine S-methyltransferase Homo sapiens 64-104 31473512-8 2019 Women with genetic variants in choline dehydrogenase (CHDH) and betaine-homocysteine S-methyltransferase (BHMT) had higher serum MMA concentrations (~31%, P=.03) and lower serum holotranscobalamin concentrations (~34%, P=.03), respectively. Methylmalonic Acid 129-132 betaine--homocysteine S-methyltransferase Homo sapiens 106-110 29845181-6 2018 In vivo, the developed vitamin B12 loaded nanoparticle showed increased serum vitamin B12 levels upon oral administration and reduced the methylmalonic acid level more efficiently than the free form in rats. Methylmalonic Acid 138-156 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 31-34 29620684-4 2019 His plasma total homocysteine and urinary methylmalonic acid levels were elevated, and a homozygous nonsense mutation [p. R250X (c.748C>T] leading to premature termination of translation was identified in the MMADHC gene, which was compatible with CblD defect. Methylmalonic Acid 42-60 metabolism of cobalamin associated D Homo sapiens 212-218 29874929-2 2018 However, impaired clearance of MMA from blood due to decreased glomerular filtration rate (eGFR) also results in elevated plasma MMA concentrations. Methylmalonic Acid 31-34 epidermal growth factor receptor Homo sapiens 91-95 29874929-2 2018 However, impaired clearance of MMA from blood due to decreased glomerular filtration rate (eGFR) also results in elevated plasma MMA concentrations. Methylmalonic Acid 129-132 epidermal growth factor receptor Homo sapiens 91-95 31146325-0 2019 MCEE Mutations in an Adult Patient with Parkinson"s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid. Methylmalonic Acid 101-119 methylmalonyl-CoA epimerase Homo sapiens 0-4 31193945-5 2019 In this review, we describe the heterogeneous disease spectrum of patients with vitamin B12 deficiency in whom the diagnosis was either based on low serum B12 levels, elevated biomarkers like methylmalonic acid and/or homocysteine, or the improvement of clinical symptoms after the institution of parenteral vitamin B12 therapy. Methylmalonic Acid 192-210 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 88-91 33636915-1 2018 BACKGROUND: Increased methylmalonic acid (MMA) levels can aid in assessing vitamin B12 deficiency or abnormal propionate metabolism. Methylmalonic Acid 22-40 activation induced cytidine deaminase Homo sapiens 58-61 33636915-1 2018 BACKGROUND: Increased methylmalonic acid (MMA) levels can aid in assessing vitamin B12 deficiency or abnormal propionate metabolism. Methylmalonic Acid 42-45 activation induced cytidine deaminase Homo sapiens 58-61 30214334-3 2018 The serum level of vitamin B12 was mildly decreased with high methylmalonic acid and homocysteine levels. Methylmalonic Acid 62-80 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 27-30 29172662-3 2017 Biochemically, vitamin B12 deficiency leads to an accumulation of methylmalonic acid, homocysteine, and propionylcarnitine. Methylmalonic Acid 66-84 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 23-26 29262333-5 2017 administration of hMUT mRNA in two different mouse models of MMA resulted in a 75%-85% reduction in plasma methylmalonic acid and was associated with increased hMUT protein expression and activity in liver. Methylmalonic Acid 107-125 methylmalonyl-CoA mutase Homo sapiens 18-22 29153845-6 2017 Thirty-seven mutant ABC transporters were screened for the excretion of methylmalonic acid (MMA), which should result from loss of Cbl transport into the mitochondria. Methylmalonic Acid 72-90 ATP binding cassette subfamily B member 6 (Langereis blood group) Homo sapiens 20-23 29153845-6 2017 Thirty-seven mutant ABC transporters were screened for the excretion of methylmalonic acid (MMA), which should result from loss of Cbl transport into the mitochondria. Methylmalonic Acid 72-90 Cbl proto-oncogene Homo sapiens 131-134 29153845-6 2017 Thirty-seven mutant ABC transporters were screened for the excretion of methylmalonic acid (MMA), which should result from loss of Cbl transport into the mitochondria. Methylmalonic Acid 92-95 ATP binding cassette subfamily B member 6 (Langereis blood group) Homo sapiens 20-23 29153845-6 2017 Thirty-seven mutant ABC transporters were screened for the excretion of methylmalonic acid (MMA), which should result from loss of Cbl transport into the mitochondria. Methylmalonic Acid 92-95 Cbl proto-oncogene Homo sapiens 131-134 29172662-10 2017 We also detected an additional vitamin B12-deficient infant with neurological symptoms at 4 months of age, after a normal newborn screening, because of elevated urinary methylmalonic acid concentration. Methylmalonic Acid 169-187 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 39-42 29172662-13 2017 Conslusions: Optimizing the cut off values of current screening parameters and measuring of methylmalonic acid and/or homocysteine in the dried blood spot, as a second tier test, can improve recognition rate of vitamin B12 deficiency. Methylmalonic Acid 92-110 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 219-222 28537576-5 2017 Methylmalonic acid and homocysteine normalised following B12 injections. Methylmalonic Acid 0-18 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 57-60 28925645-5 2017 Measurement of serum methylmalonic acid should be used to confirm deficiency in asymptomatic high-risk patients with low-normal levels of vitamin B12. Methylmalonic Acid 21-39 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 146-149 28166085-7 2017 Our case demonstrates the importance of the methyl malonic acid test to detect early or mild vitamin B12 deficiency as a cause of myelopathy while serum vitamin B12 level may be normal. Methylmalonic Acid 44-63 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 101-104 28660890-8 2017 Diagnostic biomarkers for B12 status include decreased levels of circulating total B12 and transcobalamin-bound B12, and abnormally increased levels of homocysteine and methylmalonic acid. Methylmalonic Acid 169-187 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 26-29 28566165-11 2017 In the majority of the cases PN has been linked to abnormalities in vitamin B12, methylmalonic acid or fasting homocysteine levels. Methylmalonic Acid 81-99 U6 snRNA biogenesis phosphodiesterase 1 Homo sapiens 29-31 28363510-0 2017 X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. Methylmalonic Acid 125-143 host cell factor C1 Homo sapiens 29-34 28363510-11 2017 CONCLUSIONS: This boy had X-linked cobalamin deficiency (HCFC1) with increased cerebrospinal fluid glycine and methylmalonic acid and increased cerebrospinal fluid to plasma glycine ratio suggesting a brain hyperglycinemia. Methylmalonic Acid 111-129 host cell factor C1 Homo sapiens 57-62 28333089-2 2017 Methylmalonic acid (MMA) is a sensitive indicator of B12 status. Methylmalonic Acid 0-18 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 53-56 28333089-2 2017 Methylmalonic acid (MMA) is a sensitive indicator of B12 status. Methylmalonic Acid 20-23 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 53-56 27858373-6 2017 MMA level remained always in the normal range.To date, placement of a subcutaneous catheter to minimize the pain related to parenteral vitamin B12 punctures has been described only in a patient with deficiency of the enzyme methylmalonyl-CoA mutase (MUT). Methylmalonic Acid 0-3 methylmalonyl-CoA mutase Homo sapiens 224-248 28395089-5 2017 MMA-injected mice showed increased levels of the reactive oxygen species marker 2",7"-dichlorofluorescein diacetate, tumor necrosis factor, interleukin-1beta, caspases 1, 3, and 8, and increased acetylcholinesterase activity in the cortex, hippocampus and striatum. Methylmalonic Acid 0-3 interleukin 1 beta Mus musculus 140-179 29188889-1 2017 BACKGROUND: Vitamin B12 status is measured by four plasma/ serum biomarkers: total vitamin B12 (total B12), holotranscobalamin (holoTC), methylmalonic acid (MMA) and homocysteine (tHcy). Methylmalonic Acid 157-160 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 20-23 29188889-9 2017 RESULTS: A doubling of B12 intake was associated with 9% higher total B12, 15% higher HoloTC, 9% lower MMA and 2% lower tHcy. Methylmalonic Acid 103-106 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 23-26 29188889-11 2017 Spline regression showed that levels of MMA and tHcy started to rise when vitamin B12 levels fall below 330 pmol/L and with HoloTC levels below 100 pmol/L, with a sharp increase with levels of B12 and HoloTC below 220 and 50 pmol/L respectively. Methylmalonic Acid 40-43 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 82-85 29188889-11 2017 Spline regression showed that levels of MMA and tHcy started to rise when vitamin B12 levels fall below 330 pmol/L and with HoloTC levels below 100 pmol/L, with a sharp increase with levels of B12 and HoloTC below 220 and 50 pmol/L respectively. Methylmalonic Acid 40-43 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 193-196 27349184-2 2016 Inborn errors of Cbl metabolism are rare Mendelian disorders associated with hematological and neurological manifestations, and elevations of methylmalonic acid and/or homocysteine in the blood and urine. Methylmalonic Acid 142-160 Cbl proto-oncogene Homo sapiens 17-20 27446930-2 2016 Deficiency of Cbl, whether nutritional or due to inborn errors of Cbl metabolism, inactivate MS and MCM leading to the accumulation of homocysteine (Hcy) and methylmalonic acid (MMA), respectively. Methylmalonic Acid 158-176 Cbl proto-oncogene Homo sapiens 14-17 27492701-2 2016 AMR lead to increased methylmalonic acid in plasma and urine without hyperhomocysteinemia. Methylmalonic Acid 22-40 G protein-coupled receptor 182 Homo sapiens 0-3 27003903-2 2016 Functional vitamin B12 deficiency, defined by elevated levels of the B12-dependent metabolites, methylmalonic acid (MMA), and/or homocysteine, despite normal B12 values, may cause neuropathy and is associated with disorders linked to increased oxidative stress. Methylmalonic Acid 96-114 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 19-22 27446930-2 2016 Deficiency of Cbl, whether nutritional or due to inborn errors of Cbl metabolism, inactivate MS and MCM leading to the accumulation of homocysteine (Hcy) and methylmalonic acid (MMA), respectively. Methylmalonic Acid 178-181 Cbl proto-oncogene Homo sapiens 14-17 26983191-6 2014 Direct metabolic consequences of impaired B12 absorption and metabolism are the accumulation of methylmalonic acid (MMA) and of homocysteine (HCy), respectively. Methylmalonic Acid 96-114 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 42-45 26825869-10 2016 Homocysteine and methylmalonic acid levels decreased significantly after FA/B12 administration, and remained below baseline levels during the study. Methylmalonic Acid 17-35 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 76-79 26992463-6 2016 Receiver operating characteristic analysis of NeS-DW ability to detect MMA 367 nmol/L revealed a significant area under the curve AUC = 0.761 P 0.001 95% CI 0.693-0.830. Methylmalonic Acid 71-74 nestin Homo sapiens 46-49 27132595-0 2016 A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. Methylmalonic Acid 42-60 3-hydroxyisobutyryl-CoA hydrolase Homo sapiens 25-30 27132595-1 2016 Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase. Methylmalonic Acid 0-18 methylmalonyl-CoA mutase Homo sapiens 123-147 27132595-1 2016 Methylmalonic acid (MMA) is a by-product of propionic acid metabolism through the vitamin B12 (cobalamin)-dependent enzyme methylmalonyl CoA mutase. Methylmalonic Acid 20-23 methylmalonyl-CoA mutase Homo sapiens 123-147 27132595-8 2016 The association between MMA levels and HIBCH rs291466 was highly significant in a replication cohort of 1,481 older individuals (median age 79 years) with elevated plasma MMA concentrations (0.34 [0.24-0.51] mumol/L; p = 4.0 x 10(-26)). Methylmalonic Acid 24-27 3-hydroxyisobutyryl-CoA hydrolase Homo sapiens 39-44 27132595-8 2016 The association between MMA levels and HIBCH rs291466 was highly significant in a replication cohort of 1,481 older individuals (median age 79 years) with elevated plasma MMA concentrations (0.34 [0.24-0.51] mumol/L; p = 4.0 x 10(-26)). Methylmalonic Acid 171-174 3-hydroxyisobutyryl-CoA hydrolase Homo sapiens 39-44 26296064-3 2015 Holotranscobalamin (holoTC) combined with methylmalonic acid (MMA) is believed to be more accurate in identifying impaired B12 status. Methylmalonic Acid 62-65 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 123-126 26226119-1 2015 PURPOSE: The objective of the study was to determine the incidence of vitamin B12 deficiency in patients under long-term treatment for phenylketonuria (PKU) and hyperphenylalaninemia (HPA), as well as its associations with B12 vitamin parameters (holotranscobalamin - active vitamin B12, serum folate, total plasma homocysteine, and plasma methylmalonic acid concentration). Methylmalonic Acid 340-358 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 78-81 25756278-5 2015 Setting a cut-off level to define serum vitamin B12 deficiency is difficult; though homocysteine and methylmalonic acid are more sensitive for vitamin B12 deficiency, it may give false result in some conditions and the reference intervals are not standardised. Methylmalonic Acid 101-119 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 151-154 25467488-1 2015 Methylmalonic acid (MMA) and total homocysteine (tHCYS) concentrations are used to detect acquired and inborn errors of cobalamin (vitamin B12, Cbl) metabolism and to evaluate the effect of therapeutic interventions. Methylmalonic Acid 0-18 Cbl proto-oncogene Homo sapiens 144-147 25205257-1 2014 Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). Methylmalonic Acid 133-151 monocyte to macrophage differentiation associated Homo sapiens 0-44 25205257-1 2014 Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). Methylmalonic Acid 133-151 methylmalonyl-CoA mutase Homo sapiens 173-197 24722857-1 2014 In humans vitamin B12 (cobalamin, Cbl) must be converted into two coenzyme forms, methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain intracellular homeostasis of homocysteine and methylmalonic acid, respectively. Methylmalonic Acid 205-223 Cbl proto-oncogene Homo sapiens 34-37 26915364-1 2016 BACKGROUND: The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Methylmalonic Acid 69-87 acyl-CoA synthetase family member 3 Homo sapiens 222-227 26915364-1 2016 BACKGROUND: The presence of increased urinary concentrations of both methylmalonic acid (MMA) and malonic acid (MA) is assumed to differentiate combined malonic and methylmalonic aciduria (CMAMMA), due to mutations in the ACSF3 gene, from other causes of methylmalonic aciduria (classic MMAemia). Methylmalonic Acid 89-92 acyl-CoA synthetase family member 3 Homo sapiens 222-227 25762406-9 2015 The cblC defect can be screened by measuring propionylcarnitine, propionylcarnitine-to-acetylcarnitine ratio combined with the second tier markers methylmalonic acid and tHcy. Methylmalonic Acid 147-165 Cbl proto-oncogene C Homo sapiens 4-8 26248135-4 2015 Using L2 yolk sac cells, megalin localized to the submembrane compartment by methylmalonic acid (MMA), which accumulates during vitamin B12 deficiency. Methylmalonic Acid 77-95 LDL receptor related protein 2 Rattus norvegicus 25-32 26248135-4 2015 Using L2 yolk sac cells, megalin localized to the submembrane compartment by methylmalonic acid (MMA), which accumulates during vitamin B12 deficiency. Methylmalonic Acid 97-100 LDL receptor related protein 2 Rattus norvegicus 25-32 26248135-5 2015 In addition, MMA inhibited megalin-mediated endocytosis via YWTD repeats motif in an ectodomain of megalin. Methylmalonic Acid 13-16 LDL receptor related protein 2 Rattus norvegicus 27-34 26248135-5 2015 In addition, MMA inhibited megalin-mediated endocytosis via YWTD repeats motif in an ectodomain of megalin. Methylmalonic Acid 13-16 LDL receptor related protein 2 Rattus norvegicus 99-106 26983191-6 2014 Direct metabolic consequences of impaired B12 absorption and metabolism are the accumulation of methylmalonic acid (MMA) and of homocysteine (HCy), respectively. Methylmalonic Acid 116-119 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 42-45 24225845-6 2013 Functional measures and reported disabilities were associated with B12 deficiency definitions that include B12 biomarkers (homocysteine or methylmalonic acid). Methylmalonic Acid 139-157 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 67-70 24719898-0 2014 Urinary methylmalonic acid as an indicator of early vitamin B12 deficiency and its role in polyneuropathy in type 2 diabetes. Methylmalonic Acid 8-26 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 60-63 24719898-3 2014 We want to determine the levels of urinary methylmalonic acid and its relationships with serum vitamin B12 and polyneuropathy. Methylmalonic Acid 43-61 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 103-106 24719898-10 2014 Urinary methylmalonic acid correlates with serum vitamin B12 levels in person with diabetes and is a sensitive marker of early polyneuropathy. Methylmalonic Acid 8-26 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 57-60 24330302-1 2013 Deficiency in methylmalonyl-coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death and neurological impairment. Methylmalonic Acid 87-105 methylmalonyl-CoA mutase Homo sapiens 14-45 24330302-1 2013 Deficiency in methylmalonyl-coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death and neurological impairment. Methylmalonic Acid 87-105 methylmalonyl-CoA mutase Homo sapiens 47-50 24330302-1 2013 Deficiency in methylmalonyl-coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death and neurological impairment. Methylmalonic Acid 107-110 methylmalonyl-CoA mutase Homo sapiens 14-45 24330302-1 2013 Deficiency in methylmalonyl-coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death and neurological impairment. Methylmalonic Acid 107-110 methylmalonyl-CoA mutase Homo sapiens 47-50 23726524-7 2013 The blood of MMA-treated animals showed a decrease in the number of polymorphonuclear and neutrophils, and an increase in mononuclear and other cell types, as well as an increase of IL-1beta and TNF-alpha levels. Methylmalonic Acid 13-16 interleukin 1 beta Rattus norvegicus 182-190 23726524-7 2013 The blood of MMA-treated animals showed a decrease in the number of polymorphonuclear and neutrophils, and an increase in mononuclear and other cell types, as well as an increase of IL-1beta and TNF-alpha levels. Methylmalonic Acid 13-16 tumor necrosis factor Rattus norvegicus 195-204 21232119-12 2011 One month of vitamin B12 treatment (N = 26) lowered serum MMA levels by 0.13 mumol/l (95%CI 0.06-0.19) more than the change observed in the placebo group (N = 23). Methylmalonic Acid 58-61 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 21-24 23475280-8 2013 In rats receiving gentamicin simultaneously with MMA, it was observed an increase in the activity of acetylcholinesterase activity in cerebral cortex, without any alteration in the activity of the other studied enzymes. Methylmalonic Acid 49-52 acetylcholinesterase Rattus norvegicus 101-121 25369926-5 2013 A useful process for assessing vitamin B12 status in clinical practice is the combination of taking a diet history, testing serum vitamin B12 level and testing homocysteine, holotranscobalamin II or methylmalonic acid serum levels. Methylmalonic Acid 199-217 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 39-42 23453891-6 2013 The PN may be linked to use of high-dose levodopa, promoting high levels of homocysteine and methylmalonic acid or reduced absorption of vitamins essential for homocysteine metabolism. Methylmalonic Acid 93-111 U6 snRNA biogenesis phosphodiesterase 1 Homo sapiens 4-6 23421317-3 2013 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid 199-217 dihydrofolate reductase Homo sapiens 41-64 23421317-3 2013 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid 199-217 dihydrofolate reductase Homo sapiens 66-70 23421317-3 2013 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid 199-217 serine hydroxymethyltransferase 1 Homo sapiens 136-140 23421317-3 2013 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid 219-222 dihydrofolate reductase Homo sapiens 41-64 23421317-3 2013 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid 219-222 dihydrofolate reductase Homo sapiens 66-70 23421317-3 2013 AIM: Investigate the association between Dihydrofolate reductase (DHFR) 19-base pair (bp) deletion and Serine hydroxymethyltransferase (SHMT) C1420T polymorphisms and serum folate and plasma Hcy and methylmalonic acid (MMA) concentrations in 85 individuals with DS. Methylmalonic Acid 219-222 serine hydroxymethyltransferase 1 Homo sapiens 136-140 23421317-6 2013 RESULTS: Individuals with DHFR DD/SHMT TT genotypes presented increased folate concentrations (p=0.004) and the DHFR II/SHMT TT genotypes were associated with increased MMA concentrations (p=0.008). Methylmalonic Acid 169-172 dihydrofolate reductase Homo sapiens 112-116 23421317-6 2013 RESULTS: Individuals with DHFR DD/SHMT TT genotypes presented increased folate concentrations (p=0.004) and the DHFR II/SHMT TT genotypes were associated with increased MMA concentrations (p=0.008). Methylmalonic Acid 169-172 serine hydroxymethyltransferase 1 Homo sapiens 120-124 24083040-6 2013 Further investigation revealed serum vitamin B12 of <30 pg/mL with elevated methylmalonic acid and homocysteine level. Methylmalonic Acid 79-97 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 45-48 21687976-4 2012 In this study, we analyzed the influence of the polymorphism C1420T in Serine hydroxymethyltransferase (SHMT) gene on maternal risk for DS and on metabolites concentrations of the folate pathway (serum folate and plasma homocysteine and methylmalonic acid). Methylmalonic Acid 237-255 serine hydroxymethyltransferase 1 Homo sapiens 71-102 21687976-4 2012 In this study, we analyzed the influence of the polymorphism C1420T in Serine hydroxymethyltransferase (SHMT) gene on maternal risk for DS and on metabolites concentrations of the folate pathway (serum folate and plasma homocysteine and methylmalonic acid). Methylmalonic Acid 237-255 serine hydroxymethyltransferase 1 Homo sapiens 104-108 21153419-2 2011 Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. Methylmalonic Acid 40-58 Cbl proto-oncogene C Homo sapiens 0-5 21497144-1 2011 Methylmalonic acid (MMA) is a metabolic intermediate transformed to succinic acid (SA) by a vitamin B(12)-dependent catalytic step, and is broadly used as a clinical biomarker of functional vitamin B12 status. Methylmalonic Acid 0-18 monocyte to macrophage differentiation associated Homo sapiens 20-23 21426888-0 2011 Parenteral vitamin B12 in macrocytic hemodialysis patients reduced MMA levels but did not change mean red cell volume or hemoglobin. Methylmalonic Acid 67-70 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 19-22 21426888-14 2011 CONCLUSIONS: IV vitamin B12 led to a sustained decline in MMA levels in macrocytic patients, suggesting functional vitamin B12 deficiency at baseline. Methylmalonic Acid 58-61 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 24-27 21156318-9 2011 The associations of homocysteine, vitamin B12 and methylmalonic acid with ApoA-I and HDL2a particles and that of homocysteine with increased small size HDL3c suggested mechanisms related with impaired synthesis of ApoA-I and HDL and abnormal maturation of HDL particles. Methylmalonic Acid 50-68 apolipoprotein A1 Homo sapiens 74-80 21156318-9 2011 The associations of homocysteine, vitamin B12 and methylmalonic acid with ApoA-I and HDL2a particles and that of homocysteine with increased small size HDL3c suggested mechanisms related with impaired synthesis of ApoA-I and HDL and abnormal maturation of HDL particles. Methylmalonic Acid 50-68 junctophilin 3 Homo sapiens 85-89 20632110-2 2011 Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. Methylmalonic Acid 40-58 Cbl proto-oncogene C Homo sapiens 0-5 23356638-3 2013 Using a PubMed search to identify relevant publications, 18 articles were found that reported B12 deficiency rates from studies that identified deficiency by measuring methylmalonic acid, holo-transcobalamin II, or both. Methylmalonic Acid 168-186 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 94-97 21802231-7 2012 DISCUSSION: MMA is an autosomal recessive disorder caused by a deficiency of methylmalonyl-CoA mutase resulting in methylmalonic acid accumulation. Methylmalonic Acid 115-133 methylmalonyl-CoA mutase Homo sapiens 77-101 22377700-5 2012 The polymorphisms MTHFR c.677C>T and solute carrier family 19 (folate transporter), member 1 (SLC19A1) c.80 A>G modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A>G polymorphism affects the MMA concentration. Methylmalonic Acid 271-274 methylenetetrahydrofolate reductase Homo sapiens 18-23 22377700-5 2012 The polymorphisms MTHFR c.677C>T and solute carrier family 19 (folate transporter), member 1 (SLC19A1) c.80 A>G modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A>G polymorphism affects the MMA concentration. Methylmalonic Acid 271-274 solute carrier family 19 member 1 Homo sapiens 97-104 21497120-4 2011 In the present study we show that cultured skin fibroblasts from cblC patients export increased levels of both homocysteine and methylmalonic acid compared to control skin fibroblasts, and that they also have decreased levels of total intracellular folates. Methylmalonic Acid 128-146 Cbl proto-oncogene C Homo sapiens 65-69 21765920-10 2011 Prior to correction for multiple testing, we detected significant associations between TCblR rs9426 and methylmalonic acid (p = 0.045), total homocysteine levels (tHcy) (p = 0.033), serum B12 (p < 0.0001), holo transcobalamin (p < 0.0001) and total transcobalamin (p < 0.0001); and between MTHFR rs1537514 and red blood cell folate (p < 0.0001). Methylmalonic Acid 104-122 CD320 molecule Homo sapiens 87-92 20549361-5 2010 She had elevated urine malonic and methylmalonic acids and was presumably homozygous for a deleterious mutation in the MLYCD gene. Methylmalonic Acid 35-54 malonyl-CoA decarboxylase Homo sapiens 119-124 19073247-5 2009 Visual analysis of electroencephalographic recordings (EEG) showed that MMA injection induced the appearance of high-voltage synchronic spike activity in the ipsilateral cortex which spreads to the contralateral cortex while quantitative electroencephalographic analysis showed larger wave amplitude during MMA-induced seizures in wild-type mice when compared with iNOS knockout mice. Methylmalonic Acid 72-75 nitric oxide synthase 2, inducible Mus musculus 365-369 20696242-6 2010 The differences observed regarding the apoptosis rate and preferred pathway between cblB and cblC patients, who both built up methylmalonic acid, might be explained by the accumulated homocysteine in the cblC group. Methylmalonic Acid 126-144 Cbl proto-oncogene B Homo sapiens 84-88 20696242-6 2010 The differences observed regarding the apoptosis rate and preferred pathway between cblB and cblC patients, who both built up methylmalonic acid, might be explained by the accumulated homocysteine in the cblC group. Methylmalonic Acid 126-144 Cbl proto-oncogene C Homo sapiens 93-97 20696242-6 2010 The differences observed regarding the apoptosis rate and preferred pathway between cblB and cblC patients, who both built up methylmalonic acid, might be explained by the accumulated homocysteine in the cblC group. Methylmalonic Acid 126-144 Cbl proto-oncogene C Homo sapiens 204-208 20077088-1 2010 The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. Methylmalonic Acid 35-53 methylmalonyl-CoA mutase Homo sapiens 140-164 20077088-1 2010 The measurement of plasma or serum methylmalonic acid (MMA) is useful for monitoring therapy in patients with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, defects of vitamin B12 metabolism, and also for the determination of functional vitamin B12 deficiency. Methylmalonic Acid 55-58 methylmalonyl-CoA mutase Homo sapiens 140-164 21120433-2 2010 This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). Methylmalonic Acid 316-334 dihydrofolate reductase Homo sapiens 124-128 21120433-2 2010 This study evaluated the influence of a 19-base pair (bp) deletion polymorphism in intron-1 of the dihydrofolate reductase (DHFR) gene on the maternal risk of DS, and investigated the association between this polymorphism and variations in the concentrations of serum folate and plasma homocysteine (Hcy) and plasma methylmalonic acid (MMA). Methylmalonic Acid 336-339 dihydrofolate reductase Homo sapiens 124-128 19073247-6 2009 We also report that administration of MMA increases NOx (NO(2) plus NO(3) content) and 3-nitrotyrosine (3-NT) levels in a greater extend in iNOS(+/+) mice than in iNOS(-/-) mice, indicating that NO overproduction and NO-mediated damage to proteins are attenuated in iNOS knockout mice. Methylmalonic Acid 38-41 nitric oxide synthase 2, inducible Mus musculus 140-144 19073247-6 2009 We also report that administration of MMA increases NOx (NO(2) plus NO(3) content) and 3-nitrotyrosine (3-NT) levels in a greater extend in iNOS(+/+) mice than in iNOS(-/-) mice, indicating that NO overproduction and NO-mediated damage to proteins are attenuated in iNOS knockout mice. Methylmalonic Acid 38-41 nitric oxide synthase 2, inducible Mus musculus 163-167 19073247-6 2009 We also report that administration of MMA increases NOx (NO(2) plus NO(3) content) and 3-nitrotyrosine (3-NT) levels in a greater extend in iNOS(+/+) mice than in iNOS(-/-) mice, indicating that NO overproduction and NO-mediated damage to proteins are attenuated in iNOS knockout mice. Methylmalonic Acid 38-41 nitric oxide synthase 2, inducible Mus musculus 163-167 19151237-2 2009 Failure of intracellular transport of B12 by transcobalamin-2 can lead to functional B12 deficiency but with apparently normal serum levels, and is suggested by raised levels of either serum methylmalonic acid or homocysteine, associated with low levels of transcobalamin-2. Methylmalonic Acid 191-209 transcobalamin 2 Homo sapiens 45-61 19277894-1 2009 An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Methylmalonic Acid 22-40 metabolism of cobalamin associated A Homo sapiens 62-81 19277894-1 2009 An adult patient with methylmalonic aciduria due to defective cobalamin synthesis (CblA) responsive to vitamin B(12) presented suddenly with severe visual impairment ascribed to optic atrophy followed by a fatal multiorgan failure and lactic acidosis but low methylmalonic acid in plasma and urine. Methylmalonic Acid 22-40 metabolism of cobalamin associated A Homo sapiens 83-87 19151237-2 2009 Failure of intracellular transport of B12 by transcobalamin-2 can lead to functional B12 deficiency but with apparently normal serum levels, and is suggested by raised levels of either serum methylmalonic acid or homocysteine, associated with low levels of transcobalamin-2. Methylmalonic Acid 191-209 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 38-41 18636794-9 2008 A highly significant correlation between homocysteine and methylmalonic acid and vitamin B12 was observed only in patients but not in controls (p<0.001 and p=0.002, respectively). Methylmalonic Acid 58-76 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 89-92 18785232-8 2008 Cbl therapy led to improvements in Hcy and MMA levels in all groups, and PN in PD-IPN patients stabilized during therapy. Methylmalonic Acid 43-46 Cbl proto-oncogene Homo sapiens 0-3 17823972-2 2007 Two patients who excrete methylmalonic acid have recently been shown to have a homozygous nonsense mutation in the gene coding for methylmalonyl CoA epimerase (MCEE). Methylmalonic Acid 25-43 methylmalonyl-CoA epimerase Homo sapiens 131-158 17912246-1 2007 The purpose of this study was to investigate the utility of plasma pharmacokinetic and pharmacodynamic measures including plasma deoxynucleosides, homocysteine and methylmalonic acid concentrations in understanding the time course and extent of the inhibition of thymidylate synthase (TS) by pemetrexed in the context of a phase I/II combination study with vinorelbine. Methylmalonic Acid 164-182 thymidylate synthetase Homo sapiens 263-283 17937813-5 2007 To gain insight into the origin and magnitude of methylmalonic acid (MMA) production in humans with methylmalonyl-CoA mutase deficiency, we evaluated two methylmalonic acidemia patients who had received different variants of combined liver-kidney transplants, one with a complete liver replacement-kidney transplant and the other with an auxiliary liver graft-kidney transplant, and compared their metabolite production to four untransplanted patients with intact renal function. Methylmalonic Acid 49-67 methylmalonyl-CoA mutase Homo sapiens 100-124 17937813-5 2007 To gain insight into the origin and magnitude of methylmalonic acid (MMA) production in humans with methylmalonyl-CoA mutase deficiency, we evaluated two methylmalonic acidemia patients who had received different variants of combined liver-kidney transplants, one with a complete liver replacement-kidney transplant and the other with an auxiliary liver graft-kidney transplant, and compared their metabolite production to four untransplanted patients with intact renal function. Methylmalonic Acid 69-72 methylmalonyl-CoA mutase Homo sapiens 100-124 17823972-2 2007 Two patients who excrete methylmalonic acid have recently been shown to have a homozygous nonsense mutation in the gene coding for methylmalonyl CoA epimerase (MCEE). Methylmalonic Acid 25-43 methylmalonyl-CoA epimerase Homo sapiens 160-164 17823972-3 2007 To further understand the cause of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients with elevations of methylmalonic acid excretion for which no cause was known. Methylmalonic Acid 35-53 methylmalonyl-CoA epimerase Homo sapiens 69-73 17823972-3 2007 To further understand the cause of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients with elevations of methylmalonic acid excretion for which no cause was known. Methylmalonic Acid 128-146 methylmalonyl-CoA epimerase Homo sapiens 69-73 17412572-4 2007 Vitamin B12 levels were very low associated with increased methylmalonic acid and homocysteine serum levels which confirm the diagnostic . Methylmalonic Acid 59-77 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 8-11 17597648-6 2007 Chronic renal failure (CRF) was found most frequently in mut0 (61%) and cblB patients (66%), and was predicted by the urinary excretion of methylmalonic acid (MMA) before CRF. Methylmalonic Acid 139-157 Cbl proto-oncogene B Homo sapiens 72-76 16464760-1 2005 Vitamin B12 deficiency causes decreased Methionine Synthase and L-Methylmalonyl-CoA Mutase activity and results in accumulation of Homocysteine, Methylmalonic acid and Propionylcarnitine. Methylmalonic Acid 145-163 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 8-11 17287286-0 2007 Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Methylmalonic Acid 46-64 succinate-CoA ligase ADP-forming subunit beta Homo sapiens 78-84 17222169-0 2007 Glomerular filtration rate as measured by serum cystatin C is an important determinant of plasma homocysteine and serum methylmalonic acid in the elderly. Methylmalonic Acid 120-138 cystatin C Homo sapiens 48-58 17222169-8 2007 Cystatin C was correlated with tHcy (r = 0.45, P < 0.001) and with MMA (r =0.28, P < 0.001), independently of vitamin B(12)- and folate status. Methylmalonic Acid 70-73 cystatin C Homo sapiens 0-10 17222169-11 2007 Nomograms for evaluation of tHcy and MMA in relation to both cystatin C and serum creatinine are presented. Methylmalonic Acid 37-40 cystatin C Homo sapiens 61-71 16843692-4 2006 RNA interference against mmcm-1, mmab-1, mmaa-1 in the presence of propionic acid revealed a chemical phenotype of increased methylmalonic acid; deletion mutants of mmcm-1, mmab-1 and mce-1 displayed reduced 1-[(14)C]-propionate incorporation into macromolecules. Methylmalonic Acid 125-143 putative methylmalonyl-CoA mutase, mitochondrial Caenorhabditis elegans 25-31 16843692-4 2006 RNA interference against mmcm-1, mmab-1, mmaa-1 in the presence of propionic acid revealed a chemical phenotype of increased methylmalonic acid; deletion mutants of mmcm-1, mmab-1 and mce-1 displayed reduced 1-[(14)C]-propionate incorporation into macromolecules. Methylmalonic Acid 125-143 Corrinoid adenosyltransferase Caenorhabditis elegans 33-39 16843692-4 2006 RNA interference against mmcm-1, mmab-1, mmaa-1 in the presence of propionic acid revealed a chemical phenotype of increased methylmalonic acid; deletion mutants of mmcm-1, mmab-1 and mce-1 displayed reduced 1-[(14)C]-propionate incorporation into macromolecules. Methylmalonic Acid 125-143 Methylmalonic aciduria type A homolog, mitochondrial Caenorhabditis elegans 41-47 16384886-8 2006 Individuals with low concentrations of both total vitamin B12 and holoTC had significantly higher concentrations of methylmalonic acid and homocysteine than did individuals with total vitamin B12 and/or holoTC within the reference intervals (P < 0.001). Methylmalonic Acid 116-134 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 58-61 17301081-5 2007 Since the reaction catalysed by succinyl-CoA synthase in the tricarboxylic acid (TCA) cycle represents a distal step of the methylmalonic acid pathway, we investigated the SUCLA2 gene as a candidate gene in our patients. Methylmalonic Acid 124-142 succinate-CoA ligase ADP-forming subunit beta Homo sapiens 172-178 17301081-8 2007 Defects in SUCLA2 can be found at the metabolite level and are defined by mildly elevated methylmalonic acid and C4-dicarboxylic carnitine concentrations in body fluids in association with variable lactic acidosis. Methylmalonic Acid 90-108 succinate-CoA ligase ADP-forming subunit beta Homo sapiens 11-17 17024475-10 2006 Moreover, we demonstrate a possible interaction between the MTRR 66GG genotype and high plasma MMA levels (OR 5.5, 95% CI 2.2-13.5). Methylmalonic Acid 95-98 5-methyltetrahydrofolate-homocysteine methyltransferase reductase Homo sapiens 60-64 16469366-2 2006 It has been reported that methylmalonic acid (MMA) accumulation inhibits succinate dehydrogenase (SDH) and beta-hydroxybutyrate dehydrogenase activity and respiratory chain complexes in vitro, leading to decreased CO2 production, O2 consumption and increased lactate production. Methylmalonic Acid 26-44 succinate dehydrogenase complex iron sulfur subunit B Homo sapiens 73-96 16469366-2 2006 It has been reported that methylmalonic acid (MMA) accumulation inhibits succinate dehydrogenase (SDH) and beta-hydroxybutyrate dehydrogenase activity and respiratory chain complexes in vitro, leading to decreased CO2 production, O2 consumption and increased lactate production. Methylmalonic Acid 26-44 succinate dehydrogenase complex iron sulfur subunit B Homo sapiens 98-101 16469366-2 2006 It has been reported that methylmalonic acid (MMA) accumulation inhibits succinate dehydrogenase (SDH) and beta-hydroxybutyrate dehydrogenase activity and respiratory chain complexes in vitro, leading to decreased CO2 production, O2 consumption and increased lactate production. Methylmalonic Acid 46-49 succinate dehydrogenase complex iron sulfur subunit B Homo sapiens 73-96 16469366-2 2006 It has been reported that methylmalonic acid (MMA) accumulation inhibits succinate dehydrogenase (SDH) and beta-hydroxybutyrate dehydrogenase activity and respiratory chain complexes in vitro, leading to decreased CO2 production, O2 consumption and increased lactate production. Methylmalonic Acid 46-49 succinate dehydrogenase complex iron sulfur subunit B Homo sapiens 98-101 16385831-3 2005 Insufficient availability of vitamin B12 will lead to the accumulation of methylmalonic acid and homocysteine in the body. Methylmalonic Acid 74-92 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 37-40 16385831-4 2005 Nearly all patients with vitamin B12 deficiency also have substantially increased levels of methylmalonic acid and homocysteine. Methylmalonic Acid 92-110 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 33-36 16385831-5 2005 New tests of serum methylmalonic acid and homocysteine are highly sensitive for vitamin B12 deficiency and may obviate the need for the somewhat cumbersome Schilling test. Methylmalonic Acid 19-37 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 88-91 16464760-6 2005 Homocysteine and Methylmalonic acid may be better markers of Vitamin B12 deficiency. Methylmalonic Acid 17-35 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 69-72 15898756-1 2005 This communication reports highly enantioselective and diastereoselective methyl malonic acid half thioester (MeMAHT) aldol reactions that are compatible with protic functional groups and enolizable aldehydes, affording syn S-phenyl thiopropionates. Methylmalonic Acid 74-93 synemin Homo sapiens 220-223 15926134-3 2005 Both of them had an increased rate of excretion of methylmalonic acid, as well as homocysteine, in urine with extremely low serum levels of vitamin B12, as compared to normal values. Methylmalonic Acid 51-69 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 148-151 14568819-1 2003 BACKGROUND: Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of methylmalonic acid and homocysteine in the blood and urine. Methylmalonic Acid 21-39 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 217-220 16197297-6 2005 Elevated concentrations of methylmalonic acid (MMA) is common in infants (age <6 months), which may indicate a transient inadequate vitamin B12 status. Methylmalonic Acid 27-45 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 143-146 16197297-6 2005 Elevated concentrations of methylmalonic acid (MMA) is common in infants (age <6 months), which may indicate a transient inadequate vitamin B12 status. Methylmalonic Acid 47-50 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 143-146 15055362-2 2004 Growth hormone (GH) therapy has been considered in the management of these disorders as a mode to enhance anabolism and lower the high levels of methylmalonic acid. Methylmalonic Acid 145-163 growth hormone 1 Homo sapiens 0-14 15055362-2 2004 Growth hormone (GH) therapy has been considered in the management of these disorders as a mode to enhance anabolism and lower the high levels of methylmalonic acid. Methylmalonic Acid 145-163 growth hormone 1 Homo sapiens 16-18 15055362-5 2004 In anticipation of using GH therapy to reduce high methylmalonic acid concentrations, the first patient underwent GH testing utilizing a provocative glucagon stimulation test and was found to be deficient. Methylmalonic Acid 51-69 growth hormone 1 Homo sapiens 25-27 15189123-4 2004 Elevated methylmalonic acid and/or total homocysteine are sensitive indicators of vitamin B12-deficient diets and correlate with clinical abnormalities. Methylmalonic Acid 9-27 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 90-93 11553056-0 2001 Homocysteine and methylmalonic acid as indicators of folate and vitamin B12 deficiency in pregnancy. Methylmalonic Acid 17-35 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 72-75 12895456-3 2003 In the present study we investigated the effects of ammonium ions on the convulsant action of MMA, MMA-induced inhibition of striatal succinate dehydrogenase, and the striatal content of thiobarbituric acid-reactive substances (TBARS). Methylmalonic Acid 99-102 succinate dehydrogenase complex iron sulfur subunit B Homo sapiens 134-157 12499993-8 2003 However, there was a significant positive correlation between serum MMA and gastrin concentrations. Methylmalonic Acid 68-71 gastrin Homo sapiens 76-83 11979347-12 2002 Vitamin B12 supplementation for 8 weeks significantly reduced MMA concentrations in HD patients with normal serum vitamin B12 concentrations. Methylmalonic Acid 62-65 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 8-11 11592449-1 2001 In a pilot study we measured the effect of three different combinations of the vitamins B6, folate and B12 on the serum concentrations of homocysteine, cystathionine and methylmalonic acid in five healthy young men without hyperhomocysteinemia. Methylmalonic Acid 170-188 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 103-106 12515324-0 2002 Effect of propionic and methylmalonic acids on the high molecular weight neurofilament subunit (NF-H) in rat cerebral cortex. Methylmalonic Acid 24-43 neurofilament heavy chain Rattus norvegicus 96-100 11592431-10 2001 Elderly people have a high frequency of vitamin B12 deficiency which can be diagnosed more reliably by the measurement of serum methylmalonic acid (MMA) level than by serum vitamin B12. Methylmalonic Acid 128-146 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 48-51 11592431-10 2001 Elderly people have a high frequency of vitamin B12 deficiency which can be diagnosed more reliably by the measurement of serum methylmalonic acid (MMA) level than by serum vitamin B12. Methylmalonic Acid 148-151 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 48-51 11592431-11 2001 Subjects following a strict vegetarian diet also have a high prevalence of hyperhomocysteinemia caused by functional vitamin B12 deficiency (increased MMA level). Methylmalonic Acid 151-154 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 125-128 11553056-3 2001 Increased methylmalonic acid levels are a sensitive indicator of mild vitamin B12 deficiency and elevated homocysteine levels denote vitamin B12 or folate deficiency. Methylmalonic Acid 10-28 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 78-81 11553056-6 2001 In addition, a significant inverse correlation was found between methylmalonic acid and vitamin B12. Methylmalonic Acid 65-83 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 96-99 8929440-0 1996 Methylmalonyl-CoA mutase induction by cerebral ischemia and neurotoxicity of the mitochondrial toxin methylmalonic acid. Methylmalonic Acid 101-119 methylmalonyl-CoA mutase Homo sapiens 0-24 9296563-2 1997 We demonstrated that pre-treatment of cerebral cortex slices of young rats with 2.5 mM buffered methylmalonic acid (MMA) is effective in decreasing in vitro incorporation of [32P]ATP into neurofilament subunits (NF-M and NF-L) and alpha- and beta-tubulins. Methylmalonic Acid 116-119 neurofilament medium chain Rattus norvegicus 212-216 9296563-2 1997 We demonstrated that pre-treatment of cerebral cortex slices of young rats with 2.5 mM buffered methylmalonic acid (MMA) is effective in decreasing in vitro incorporation of [32P]ATP into neurofilament subunits (NF-M and NF-L) and alpha- and beta-tubulins. Methylmalonic Acid 116-119 neurofilament light chain Rattus norvegicus 221-225 9296563-7 1997 Taken together, these results suggest that MMA, at the same concentrations found in tissues of methylmalonic acidemic children, inhibits the in vitro activities of PKA, CaMKII and PP1 associated with the cytoskeletal fraction of the cerebral cortex of rats, a fact that may be involved with the pathogenesis of the neurological dysfunction characteristic of methylmalonic acidemia. Methylmalonic Acid 43-46 calcium/calmodulin dependent protein kinase II gamma Homo sapiens 169-175 9296563-7 1997 Taken together, these results suggest that MMA, at the same concentrations found in tissues of methylmalonic acidemic children, inhibits the in vitro activities of PKA, CaMKII and PP1 associated with the cytoskeletal fraction of the cerebral cortex of rats, a fact that may be involved with the pathogenesis of the neurological dysfunction characteristic of methylmalonic acidemia. Methylmalonic Acid 43-46 inorganic pyrophosphatase 1 Homo sapiens 180-183 8929440-7 1996 Methylmalonic acid, which is formed from the MCM substrate methylmalonyl-CoA and which inhibits succinate dehydrogenase (SDH), produced dose-related cell death when injected into the basal ganglia of adult rat brain. Methylmalonic Acid 0-18 methylmalonyl-CoA mutase Homo sapiens 45-48 8929440-7 1996 Methylmalonic acid, which is formed from the MCM substrate methylmalonyl-CoA and which inhibits succinate dehydrogenase (SDH), produced dose-related cell death when injected into the basal ganglia of adult rat brain. Methylmalonic Acid 0-18 succinate dehydrogenase complex iron sulfur subunit B Homo sapiens 121-124 8929440-9 1996 Methylmalonic acid may contribute to neuronal injury in human conditions in which it accumulates, including MCM mutations and B12 deficiency. Methylmalonic Acid 0-18 methylmalonyl-CoA mutase Homo sapiens 108-111 8929440-10 1996 This study shows that methylmalonyl-CoA mutase is induced by several stresses, including ischemia, and would serve to decrease the accumulation of an endogenous cellular mitochondrial inhibitor and neurotoxin, methylmalonic acid. Methylmalonic Acid 210-228 methylmalonyl-CoA mutase Homo sapiens 22-46 8179199-1 1994 An isocratic reverse-phase C18 high-performance liquid chromatography (HPLC) technique for methylmalonic acid (MMA) with fluorescence detection is described. Methylmalonic Acid 91-109 Bardet-Biedl syndrome 9 Homo sapiens 27-30 8741039-7 1996 Investigations for neurometabolic disorders in urine, plasma and CSF of both patients revealed a consistent increase of methylmalonic acid in urine, plasma and CSF as well as borderline low free GABA in CSF. Methylmalonic Acid 120-138 colony stimulating factor 2 Homo sapiens 65-68 9384744-1 1996 Elevated methylmalonic acid (MMA) is a superior marker for cobalamin (vitamin B12) deficiency. Methylmalonic Acid 9-27 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 78-81 9384744-1 1996 Elevated methylmalonic acid (MMA) is a superior marker for cobalamin (vitamin B12) deficiency. Methylmalonic Acid 29-32 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 78-81 7482352-7 1995 There was a strong dose-response relationship between midtrimester serum MMA level and the risk for an NTD-affected pregnancy, with the relative risk increasing 13-fold for women with MMA levels > 90th percentile. Methylmalonic Acid 73-76 fuzzy planar cell polarity protein Homo sapiens 103-106 7482352-7 1995 There was a strong dose-response relationship between midtrimester serum MMA level and the risk for an NTD-affected pregnancy, with the relative risk increasing 13-fold for women with MMA levels > 90th percentile. Methylmalonic Acid 184-187 fuzzy planar cell polarity protein Homo sapiens 103-106 8602704-0 1996 Elevated methylmalonic acid and total homocysteine levels show high prevalence of vitamin B12 deficiency after gastric surgery. Methylmalonic Acid 9-27 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 90-93 8602704-6 1996 Vitamin B12 deficiency was defined as one of the following: 1) a serum vitamin B12 level less than 221 pmol/L and an elevated methylmalonic acid level; 2) a serum vitamin B12 level less than 221 pmol/L and an elevated total homocysteine level that decreased with vitamin B12 treatment; or 3) in patients unavailable for treatment, a serum vitamin B12 level less than 221 pmol/L, a folate level greater than 9 nmol/L, and an elevated total homocysteine level. Methylmalonic Acid 126-144 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 8-11 8602704-10 1996 In all participants with vitamin B12 deficiency who received treatment (15 of 21), methylmalonic acid and total homocysteine levels decreased substantially, confirming the deficiency before treatment. Methylmalonic Acid 83-101 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 33-36 8875026-6 1996 Inadequate tissue availability of cobalamin results in increased concentration of methylmalonic acid and homocyst(e)ine due to inhibition of methylmalonyl-CoA mutase and methionine synthase, respectively. Methylmalonic Acid 82-100 5-methyltetrahydrofolate-homocysteine methyltransferase Homo sapiens 170-189 8179199-1 1994 An isocratic reverse-phase C18 high-performance liquid chromatography (HPLC) technique for methylmalonic acid (MMA) with fluorescence detection is described. Methylmalonic Acid 111-114 Bardet-Biedl syndrome 9 Homo sapiens 27-30 2239784-4 1990 Infant urinary MMA excretion was inversely related to milk vitamin B-12 concentrations less than 362 pmol/L. Methylmalonic Acid 15-18 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 67-71 8106575-0 1993 Quantification of methylmalonic acid in serum measured by capillary gas chromatography-mass spectrometry as tert.-butyldimethylsilyl derivatives. Methylmalonic Acid 18-36 telomerase reverse transcriptase Homo sapiens 108-112 8106575-2 1993 Methylmalonic acid was measured as tert.-butyldimethylsilyl derivatives formed in the presence of dimethylformamide. Methylmalonic Acid 0-18 telomerase reverse transcriptase Homo sapiens 35-39 1922806-1 1991 We measured methylmalonic acid, which accumulates in the blood and tissues of patients with cobalamin deficiency, in the CSF of 65 patients using capillary-gas chromatography and mass spectrometry. Methylmalonic Acid 12-30 colony stimulating factor 2 Homo sapiens 121-124 1922806-2 1991 In 58 control patients, methylmalonic acid concentrations were always higher in CSF than in serum (mean CSF: serum ratio, 2.65; range, 1.17 to 7.78). Methylmalonic Acid 24-42 colony stimulating factor 2 Homo sapiens 80-83 1922806-2 1991 In 58 control patients, methylmalonic acid concentrations were always higher in CSF than in serum (mean CSF: serum ratio, 2.65; range, 1.17 to 7.78). Methylmalonic Acid 24-42 colony stimulating factor 2 Homo sapiens 104-107 1922806-3 1991 In contrast, in six patients with elevated serum methylmalonic acid levels due to renal failure, CSF concentrations were normal in five and the CSF: serum ratio was less than one in four. Methylmalonic Acid 49-67 colony stimulating factor 2 Homo sapiens 97-100 1922806-3 1991 In contrast, in six patients with elevated serum methylmalonic acid levels due to renal failure, CSF concentrations were normal in five and the CSF: serum ratio was less than one in four. Methylmalonic Acid 49-67 colony stimulating factor 2 Homo sapiens 144-147 1931558-7 1991 Methylmalonic acid could be detected and quantitated (ca 150 microM) in the CSF from the vitamin B12 deficient patient. Methylmalonic Acid 0-18 colony stimulating factor 2 Homo sapiens 76-79 35361954-4 2022 The loss of MCEE results in reduced propionate-driven anaplerotic flux and intracellular and intratumoral accumulation of methylmalonic acid, a by-product of propionate metabolism that promotes cancer cell invasiveness. Methylmalonic Acid 122-140 methylmalonyl-CoA epimerase Homo sapiens 12-16 2278533-6 1990 In such patients, vitamin B12 deficiency is confirmed by determining serum levels of homocysteine and methylmalonic acid. Methylmalonic Acid 102-120 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 26-29 34960774-0 2021 Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B12)-Dependent Level of Methylmalonic Acid. Methylmalonic Acid 173-191 CD320 molecule Gallus gallus 38-41 34147638-2 2021 MMACHC encodes an enzyme crucial for intracellular vitamin B12 metabolism, leading to the accumulation of toxic metabolites e.g. methylmalonic acid (MMA) and homocysteine (Hcy), and secondary disturbances in folate and one-carbon metabolism when not fully functional. Methylmalonic Acid 129-147 methylmalonic aciduria cblC type, with homocystinuria Mus musculus 0-6 34147638-2 2021 MMACHC encodes an enzyme crucial for intracellular vitamin B12 metabolism, leading to the accumulation of toxic metabolites e.g. methylmalonic acid (MMA) and homocysteine (Hcy), and secondary disturbances in folate and one-carbon metabolism when not fully functional. Methylmalonic Acid 149-152 methylmalonic aciduria cblC type, with homocystinuria Mus musculus 0-6 34191487-7 2021 Our results showed that MMA impairs the respiratory parameters only at the late stage of differentiation and downregulates the transcriptional gene profile of mature neuronal markers neuron-specific enolase (ENO2) and synaptophysin (SYP). Methylmalonic Acid 24-27 enolase 2 Homo sapiens 183-206 34191487-7 2021 Our results showed that MMA impairs the respiratory parameters only at the late stage of differentiation and downregulates the transcriptional gene profile of mature neuronal markers neuron-specific enolase (ENO2) and synaptophysin (SYP). Methylmalonic Acid 24-27 enolase 2 Homo sapiens 208-212 34191487-7 2021 Our results showed that MMA impairs the respiratory parameters only at the late stage of differentiation and downregulates the transcriptional gene profile of mature neuronal markers neuron-specific enolase (ENO2) and synaptophysin (SYP). Methylmalonic Acid 24-27 synaptophysin Homo sapiens 218-231 34191487-7 2021 Our results showed that MMA impairs the respiratory parameters only at the late stage of differentiation and downregulates the transcriptional gene profile of mature neuronal markers neuron-specific enolase (ENO2) and synaptophysin (SYP). Methylmalonic Acid 24-27 synaptophysin Homo sapiens 233-236 2372940-1 1990 The clinical value of measuring concentrations of methylmalonic acid in serum (S-MMA) as an aid in the diagnosis of cobalamin deficiency has recently aroused interest. Methylmalonic Acid 50-68 activation induced cytidine deaminase Homo sapiens 92-95 2212958-1 1990 It is well established that accumulation of methylmalonic acid may provide an early clue to the existence of tissue cobalamin (vitamin B12) deficiency. Methylmalonic Acid 44-62 NADH:ubiquinone oxidoreductase subunit B3 Homo sapiens 135-138 34340239-15 2021 CONCLUSIONS: The high-concentration methylmalonic acid in the blood induced immune cells to release pro-inflammatory cytokines such as TNF-alpha and IL-6. Methylmalonic Acid 36-54 tumor necrosis factor Homo sapiens 135-144 34340239-15 2021 CONCLUSIONS: The high-concentration methylmalonic acid in the blood induced immune cells to release pro-inflammatory cytokines such as TNF-alpha and IL-6. Methylmalonic Acid 36-54 interleukin 6 Homo sapiens 149-153 35569737-5 2022 The MMAB cells produced little ATR, showed reduced residual ATR activity, and had higher concentrations of methylmalonic acid compared to healthy HLCs. Methylmalonic Acid 107-125 metabolism of cobalamin associated B Homo sapiens 4-8 35337623-10 2022 Elevation of metabolites homocysteine and methylmalonic acid occurs because the lack of an active CblC blocks formation of the indispensable precursor cob(II)alamin that is necessary to activate MS and MUT. Methylmalonic Acid 42-60 Cbl proto-oncogene C Homo sapiens 98-102