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Disease	GLUTATHIONE SYNTHETASE DEFICIENCY
Synonym	PYROGLUTAMIC ACIDURIA; 5-OXOPROLINURIA; ACIDEMIA, PYROGLUTAMIC
OMIM	266130 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	glutathione synthetase Detailed enzyme information on www.expacy.ch
Gene locus	20q11.2
genetests.org	search search on genetest.org by MIM 266130 search search on genetest.org by ://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/disease/GLUTATHIONE%20SYNTHETASE%20DEFICIENCY?db=genetests Testing - View a listing of laboratories that provide clinical testing for this disorder Resources - View and print relevant consumer health-oriented resources.
Summary	rare autosomal recessive two types: A (severe form) and B (milder form)
Clinical symptoms	Amino acids, plasma anemia ataxia cerebellar atrophy or hypoplasia hyperammonemia jaundice mental retardation metabolic acidosis motor retardation onset, child onset, infant onset, newborn Organic acids, urine seizures spastic diplegia/quadriplegia thromboembolism tremor or twitching vomiting
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 150.00-350.00 µmol/l Glutathione \| Significant : 0.30-0.60 pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit
Abnormal Findings in erythrocytes	Glutathione synthetase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in fibroblasts	Glutathione synthetase Normal: -100.00 % activity \| Significant : - decreased activity
Abnormal Findings in plasma	5-Oxoproline Normal: 13.00-161.00 µmol/l \| Significant : 3.00-4.00 µmol/l Cysteinyl leukotrienes (LTC4, LTD4, LTE4) \| Significant : - abnormal Cystinylglycine \| Significant : - absent Proline Normal: 110.00-417.00 µmol/l \| Significant : 300.00-1000.00 µmol/l
Abnormal Findings in urine	5-Oxoproline Normal: 42.00-115.00 mmol/mol creatinine \| Significant : 4000.00-30000.00 mmol/mol creatinine Cysteinyl leukotrienes (LTC4, LTD4, LTE4) \| Significant : - abnormal
Treatment	N-acetylcysteine vitamin C (ascorbate)
Picture 65	Tandem mass-spectrum in dried blood of amino acids in a newborn with gluthathione synthetase defiency
Literature	There are 8 publications available. Click here to open the relevant GLUTATHIONE SYNTHETASE DEFICIENCY publications
Ramedis Case reports with long term followup	There are 3 patient data available. Click here to open the list of GLUTATHIONE SYNTHETASE DEFICIENCY patients documented in Ramedis database