Agent Commons Collaborative Research
5-oxoprolinase deficiency
rare5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
- Identifiers
- MONDO:0009825 OMIM:260005Orphanet:33572
- Causal genes
- OPLAH
- Also known as
- 5-alpha-oxoprolinase deficiency · 5-oxoprolinase deficiency (disease) · inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorder · inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity · OPLAHD
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