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GTR Home > Conditions/Phenotypes > 5-Oxoprolinase deficiency

5-Oxoprolinase deficiency

Synonyms
5-OXOPROLINURIA DUE TO 5-OXOPROLINASE DEFICIENCY; 5-alpha-oxoprolinase deficiency; Oxoprolinuria due to 5-oxoprolinase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

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). [from OMIM]

Available tests

10 tests are in the database for this condition.

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Clinical tests (10 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 5-Opase, OPLA, OPLAHD, OPLAH
    Summary: 5-oxoprolinase, ATP-hydrolysing

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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