Rare diseases · Sign or symptom
Reduced circulating 5-oxoprolinase activity
HP:0040142
What it means
Activity or concentration of 5-oxoprolinase in the blood circulation below the lower limit of normal. This enzyme catalyzes the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate.
Rare diseases that can present with this1
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: 5-oxoprolinase deficiency · Reduced 5-oxoprolinase level
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.