5-oxoprolinase deficiency

Preferred Label : 5-oxoprolinase deficiency;

Symbol : OPLAHD;

CISMeF acronym : OPLAHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : 5-oxoprolinuria due to 5-oxoprolinase deficiency;

Description : 5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS; 601002) or 5-oxoprolinase (OPLAH; 614243). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria (summary by Calpena et al., 2013).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the 5-oxoprolinase gene (OPLAH, 614243.0001);

Laboratory abnormalities : Excessive urinary 5-oxo-L-proline; 5-oxoprolinase deficiency;

Prefixed ID : #260005;

Details

Origin ID

260005;

UMLS CUI

C0268525;

Currated CISMeF NLP mapping
- 5-Oxoprolinase deficiency (disorder) [SNOMED CT concept]
- 5-oxoprolinase deficiency [MeSH concept]
- 5-oxoprolinase deficiency [MeSH Supplementary Concept]
- 5-oxoprolinase deficiency [SNOMED Notion]
- 5-oxoprolinase deficiency [ORDO Disease]
- Oxoprolinuria [ICD-11 More detail]
- Reduced 5-oxoprolinase level [HPO term]
Genes related to phenotype
- 5-oxoprolinase (atp-hydrolyzing) [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calcium oxalate nephrolithiasis [HPO term]
- Diarrhea [HPO term]
- Enterocolitis [HPO term]
- Increased level of L-pyroglutamic acid in urine [HPO term]
- Prolinuria [HPO term]
- Reduced 5-oxoprolinase level [HPO term]
- Vomiting [HPO term]
ORDO concept(s)
- 5-oxoprolinase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 5-Oxoprolinase deficiency (disorder) [SNOMED CT concept]
- 5-oxoprolinase deficiency [ORDO Disease]
- 5-oxoprolinase deficiency [MeSH Supplementary Concept]
- 5-oxoprolinase deficiency [SNOMED Notion]
- 5-oxoprolinase deficiency [MeSH concept]
- Oxoprolinuria [ICD-11 More detail]
- Reduced 5-oxoprolinase level [HPO term]

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