PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 28267090-6 2018 Her 5-oxoproline level was 3815 mmol/mol creatinine in urine organic acid analysis, and a homozygous mutation [p.R125H (c.374G>A)] was found in the glutathione synthetase gene. Pyrrolidonecarboxylic Acid 4-16 glutathione synthetase Homo sapiens 151-173 3676243-4 1987 Glycine is one substrate for the enzyme glutathione synthase (EC 6.3.2.3) and in the inborn error of metabolism in which glutathione synthase function is defective, increased quantities of 5-oxoproline are excreted in the urine. Pyrrolidonecarboxylic Acid 189-201 glutathione synthetase Homo sapiens 40-60 8896573-1 1996 5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. Pyrrolidonecarboxylic Acid 207-219 glutathione synthetase Homo sapiens 55-77 8896573-1 1996 5-Oxoprolinuria (pyroglutamic aciduria) resulting from glutathione synthetase (GSS) deficiency is an inherited autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, haemolytic anaemia and central nervous system damage. Pyrrolidonecarboxylic Acid 207-219 glutathione synthetase Homo sapiens 79-82 26654818-3 2015 The etiology seems to be a drug-induced reversible inhibition of glutathione synthetase or 5-oxoprolinase leading to elevated serum and urine levels of 5-oxoproline. Pyrrolidonecarboxylic Acid 152-164 glutathione synthetase Homo sapiens 65-87 18072147-7 2007 DISCUSSION: Originally described in children with an inherited defect of glutathione synthetase, 5-oxoproline is an unusual cause of metabolic acidosis. Pyrrolidonecarboxylic Acid 97-109 glutathione synthetase Homo sapiens 73-95 34791353-3 2022 Herein, we present a case of a newborn boy with the most severe phenotype of GSS deficiency, diagnosed based on clinical features and increased urinary 5-oxoproline levels determined via gas chromatography mass spectrometry (GCMS) testing. Pyrrolidonecarboxylic Acid 152-164 glutathione synthetase Homo sapiens 77-80 3676243-4 1987 Glycine is one substrate for the enzyme glutathione synthase (EC 6.3.2.3) and in the inborn error of metabolism in which glutathione synthase function is defective, increased quantities of 5-oxoproline are excreted in the urine. Pyrrolidonecarboxylic Acid 189-201 glutathione synthetase Homo sapiens 121-141