PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 32351862-9 2020 Urine orotic acid levels were high confirming ornithine transcarbamylase (OTC) deficiency. Orotic Acid 6-17 ornithine transcarbamylase Homo sapiens 46-72 6510024-5 1984 Partial ornithine transcarbamylase (ornithine carbamoyltransferase EC 2.1.3.3) (OTC) deficiency was documented by elevated urinary orotic acid excretion and increased serum glutamine after a protein load. Orotic Acid 131-142 ornithine transcarbamylase Homo sapiens 8-34 32351862-9 2020 Urine orotic acid levels were high confirming ornithine transcarbamylase (OTC) deficiency. Orotic Acid 6-17 ornithine transcarbamylase Homo sapiens 74-77 10388475-1 1999 BACKGROUND: The diagnosis of heterozygosity for X-linked ornithine carbamoyltransferase (OCT) deficiency has usually been based on measurement of the increase of orotate and orotidine excretion after an allopurinol load. Orotic Acid 162-169 ornithine transcarbamylase Homo sapiens 57-87 20077096-2 2010 Measurement of secondary urinary orotic acid elevation is also an important clinical test for the differential diagnosis of hyperammonemia due to some of the primary disorders of the urea cycle including ornithine transcarbamylase (OTC) deficiency, and the hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome. Orotic Acid 33-44 ornithine transcarbamylase Homo sapiens 204-230 16601886-2 2006 Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis. Orotic Acid 85-92 ornithine transcarbamylase Homo sapiens 0-26 15240946-5 2004 A presumptive diagnosis of ornithine transcarbamylase deficiency was made on the basis of the detection of orotic acid and uracil. Orotic Acid 107-118 ornithine transcarbamylase Homo sapiens 27-53 15174800-2 2004 Diagnosis of ornithine transcarbamylase (OTC) deficiency was made on the basis of hyperammonaemia, hypocitrullinaemia and extreme hyperexcretion of orotic acid. Orotic Acid 148-159 ornithine transcarbamylase Homo sapiens 13-39 15174800-2 2004 Diagnosis of ornithine transcarbamylase (OTC) deficiency was made on the basis of hyperammonaemia, hypocitrullinaemia and extreme hyperexcretion of orotic acid. Orotic Acid 148-159 ornithine transcarbamylase Homo sapiens 41-44 30904234-8 2019 METHODS: We report the case of a 22-year-old woman"s successful pregnancy with a moderate form of ornithine transcarbamylase (OTC) deficiency, unsuspected before pregnancy, biochemically consistent with plasma aminoacidogram and orotic acid analysis, and initially masked by malnutrition. Orotic Acid 229-240 ornithine transcarbamylase Homo sapiens 98-124 30904234-8 2019 METHODS: We report the case of a 22-year-old woman"s successful pregnancy with a moderate form of ornithine transcarbamylase (OTC) deficiency, unsuspected before pregnancy, biochemically consistent with plasma aminoacidogram and orotic acid analysis, and initially masked by malnutrition. Orotic Acid 229-240 ornithine transcarbamylase Homo sapiens 126-129 30449781-5 2019 She was diagnosed with ornithine transcarbamylase deficiency (OTCD) by analyses of plasma amino acids, urinary orotic acid, and the OTC gene mutation. Orotic Acid 111-122 ornithine transcarbamylase Homo sapiens 62-65 29123827-7 2016 Ornithine transcarbamylase deficiency was diagnosed at postmortem based on fractionation of blood and urine amino acids and orotic acid. Orotic Acid 124-135 ornithine transcarbamylase Homo sapiens 0-26 24370386-0 2014 Towards newborn screening for ornithine transcarbamylase deficiency: fast non-chromatographic orotic acid quantification from dried blood spots by tandem mass spectrometry. Orotic Acid 94-105 ornithine transcarbamylase Homo sapiens 30-56 24370386-1 2014 BACKGROUND: Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D). Orotic Acid 12-23 ornithine transcarbamylase Homo sapiens 70-96 22727265-3 2013 The combination of elevated urinary orotic acid and plasma glutamine with normal citrulline suggested the diagnosis of ornithine transcarbamylase (OTC) deficiency, which was confirmed by molecular genetic testing revealing the novel hemizygous mutation c.535C > T (p.Leu179Phe) of the OTC gene. Orotic Acid 36-47 ornithine transcarbamylase Homo sapiens 119-145 22727265-3 2013 The combination of elevated urinary orotic acid and plasma glutamine with normal citrulline suggested the diagnosis of ornithine transcarbamylase (OTC) deficiency, which was confirmed by molecular genetic testing revealing the novel hemizygous mutation c.535C > T (p.Leu179Phe) of the OTC gene. Orotic Acid 36-47 ornithine transcarbamylase Homo sapiens 147-150 11080238-6 2000 Blood ammonia and urinary orotate were raised, and genetic testing confirmed that she was a carrier of a mutation in exon 3 of the ornithine transcarbamylase gene (C to T at position 92). Orotic Acid 26-33 ornithine transcarbamylase Homo sapiens 131-157 10388475-1 1999 BACKGROUND: The diagnosis of heterozygosity for X-linked ornithine carbamoyltransferase (OCT) deficiency has usually been based on measurement of the increase of orotate and orotidine excretion after an allopurinol load. Orotic Acid 162-169 ornithine transcarbamylase Homo sapiens 89-92 1434508-6 1992 This allopurinol challenge test was also performed in six children with urea-cycle disorders, including five females with ornithine transcarbamylase (OTC) deficiency, all of whom demonstrated abnormally elevated levels of urinary orotic acid (peak levels of 26-134 mumol/mmol creatinine) following allopurinol ingestion. Orotic Acid 230-241 ornithine transcarbamylase Homo sapiens 150-153