PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 3473612-7 1986 In two cases with deficient fumarylacetoacetase activity, succinylacetone was searched for but had not been found to be elevated when the enzyme defect was demonstrated. succinylacetone 58-73 fumarylacetoacetate hydrolase Homo sapiens 28-47 6652907-6 1983 It is concluded that secondary enzyme deficiencies observed in hereditary tyrosinemia (delta-aminolevulinic acid dehydratase, methionine adenosyl transferase) are the result of inhibition by succinylacetone and fumarylacetoacetate, accumulating as a result of a primary deficiency of fumarylacetoacetase. succinylacetone 191-206 fumarylacetoacetate hydrolase Homo sapiens 284-303 4064334-0 1985 Concentrations of succinylacetone after homogentisate and tyrosine loading in healthy individuals with low fumarylacetoacetase activity. succinylacetone 18-33 fumarylacetoacetate hydrolase Homo sapiens 107-126 6826727-2 1983 Succinylacetone (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a consequence of an inherited deficiency of fumarylacetoacetate hydrolase. succinylacetone 0-15 fumarylacetoacetate hydrolase Homo sapiens 164-193 6826727-2 1983 Succinylacetone (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a consequence of an inherited deficiency of fumarylacetoacetate hydrolase. succinylacetone 17-40 fumarylacetoacetate hydrolase Homo sapiens 164-193 7182986-1 1982 Succinylacetone, an abnormal metabolite of the tyrosine metabolic pathway, is produced in patients with hereditary tyrosinemia because of a genetic deficiency of fumarylacetoacetase. succinylacetone 0-15 fumarylacetoacetate hydrolase Homo sapiens 162-181 270706-5 1977 Succinylacetone and succinylacetoacetate presumably originate from maleylacetoacetate or fumarylacetoacetate, or both, and their accumulation indicates a block at the fumarylacetoacetase (EC 3.7.1.2) step in the degradation of tyrosine. succinylacetone 0-15 fumarylacetoacetate hydrolase Homo sapiens 167-186 33670179-2 2021 A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic metabolites such as succinylacetone, maleylacetoacetate, and fumarylacetoacetate in the liver and kidney, among other tissues. succinylacetone 166-181 fumarylacetoacetate hydrolase Homo sapiens 22-25 29326876-0 2018 Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles. succinylacetone 16-31 fumarylacetoacetate hydrolase Homo sapiens 120-123 27876694-1 2017 BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). succinylacetone 28-43 fumarylacetoacetate hydrolase Homo sapiens 185-214 27876694-1 2017 BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). succinylacetone 28-43 fumarylacetoacetate hydrolase Homo sapiens 216-219 27876694-1 2017 BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). succinylacetone 45-47 fumarylacetoacetate hydrolase Homo sapiens 185-214 27876694-1 2017 BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). succinylacetone 45-47 fumarylacetoacetate hydrolase Homo sapiens 216-219 11209059-6 2001 Increased levels of the diagnostic metabolite succinylacetone in the urine of the Fah(6287SB) and Fah(5961SB) mutants indicate that these mutations cause a decrease in Fah enzymatic activity. succinylacetone 46-61 fumarylacetoacetate hydrolase Homo sapiens 82-85 20003495-11 2009 The patient, currently aged 12 years, shows a normal physical and psychomotor development.This is the first report of mild tyrosinemia type I disease caused by an Ala35Thr mutation in the FAH gene, presenting atypically without increase of the diagnostically important toxic metabolites succinylacetone and succinylacetoacetate. succinylacetone 287-302 fumarylacetoacetate hydrolase Homo sapiens 188-191 16414314-2 2006 SA is pathognonomic for tyrosinemia type I, a genetic disorder caused by a reduced activity of fumarylacetoacetate hydrolase (FAH). succinylacetone 0-2 fumarylacetoacetate hydrolase Homo sapiens 95-124 16414314-2 2006 SA is pathognonomic for tyrosinemia type I, a genetic disorder caused by a reduced activity of fumarylacetoacetate hydrolase (FAH). succinylacetone 0-2 fumarylacetoacetate hydrolase Homo sapiens 126-129 23895425-1 2014 Hereditary tyrosinemia type I (HT1) is a rare disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway, resulting mainly in hepatic alterations due to accumulation of the toxic metabolites fumarylacetoacetate, maleylacetoacetate and succinylacetone. succinylacetone 280-295 fumarylacetoacetate hydrolase Homo sapiens 80-109 23895425-1 2014 Hereditary tyrosinemia type I (HT1) is a rare disease caused by a deficiency of fumarylacetoacetate hydrolase (FAH) in the tyrosine catabolic pathway, resulting mainly in hepatic alterations due to accumulation of the toxic metabolites fumarylacetoacetate, maleylacetoacetate and succinylacetone. succinylacetone 280-295 fumarylacetoacetate hydrolase Homo sapiens 111-114 11209059-6 2001 Increased levels of the diagnostic metabolite succinylacetone in the urine of the Fah(6287SB) and Fah(5961SB) mutants indicate that these mutations cause a decrease in Fah enzymatic activity. succinylacetone 46-61 fumarylacetoacetate hydrolase Homo sapiens 98-101 11209059-6 2001 Increased levels of the diagnostic metabolite succinylacetone in the urine of the Fah(6287SB) and Fah(5961SB) mutants indicate that these mutations cause a decrease in Fah enzymatic activity. succinylacetone 46-61 fumarylacetoacetate hydrolase Homo sapiens 98-101 7568087-3 1995 We report here that fahA, the gene encoding Fah in the fungus Aspergillus nidulans, encodes a polypeptide showing 47.1% identity to its human homologue, fahA disruption results in secretion of succinylacetone (a diagnostic compound for human type I tyrosinaemia) and phenylalanine toxicity. succinylacetone 193-208 fumarylacetoacetate hydrolase Homo sapiens 44-47