5-oxoprolinase deficiency
MeSH: C535322ORPHA: 33572
Overview
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with 5-oxoprolinase deficiency, sourced from HPO and Orphanet clinical annotations.
Feeding difficulties in infancyFloppy infantExcessive daytime somnolenceReduced circulating 5-oxoprolinase activityIncreased level of L-pyroglutamic acid in urineGlobal developmental delayMicrocephalyStrabismusDelayed speech and language developmentNephrolithiasisJaundiceSeizureHypotoniaFailure to thriveMetabolic acidosisHypoglycemiaCerebral atrophyEnterocolitisPostnatal macrocephaly
Classification & Codes
MeSH Code
C535322Orphanet Code
ORPHA:335725-oxoprolinase deficiency
| MeSH | C535322 |
| Orphanet | ORPHA:33572 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO