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Disease	5-OXOPROLINASE DEFICIENCY
Synonym	5-OXOPROLINURIA
OMIM	260005 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	5-oxoprolinase Detailed enzyme information on www.expacy.ch
Gene locus	unknown
genetests.org	search search on genetest.org by MIM 260005 search search on genetest.org by OXOPROLINASE Testing - View a listing of laboratories that provide clinical testing for this disorder
Summary	rare autosomal recessive "several other inborn errors of metabolism and pathophysiological conditions must be taken into account when discovering 5-oxoprolinuria" [Mayatepek, E 1999] other causes of 5-oxoproline excretion: infantile formula malnutrition prematurity acetraminophen and other drugs (in adults) severe burns unresolved [Ruijter GJG et al. 2006]
Clinical symptoms	anemia cleft palate diarrhea failure to thrive hypotonia mental retardation metabolic acidosis microcephaly no clinical signs or symptoms Organic acids, urine pain, abdominal respiratory distress urolithiasis
Abnormal Findings in fibroblasts	5-Oxoprolinase Normal: 49.00-105.00 pkat/g protein \| Significant : -7.00 pkat/g protein
Abnormal Findings in leucocytes	5-Oxoprolinase Normal: 36.00-104.00 pkat/g protein \| Significant : 0.00-10.00 pkat/g protein
Abnormal Findings in urine	5-Oxoproline Normal: 3.40-54.20 mmol/mol creatinine \| Significant : 1000.00-6000.00 mmol/mol creatinine
Treatment	no specific treatment
Literature	There are 10 publications available. Click here to open the relevant 5-OXOPROLINASE DEFICIENCY publications