5-oxoprolinase deficiency
MONDO:0009825Mondo
Findings
No curated finding names 5-oxoprolinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
5-Oxoprolinase deficiency is clinically a very heterogeneous condition characterized by 5-oxoprolinuria.
Definition from the Mondo Disease Ontology (MONDO:0009825), read 2026-09-29. CC BY 4.0.
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased level of L-pyroglutamic acid in urineHPOHP:0410132
- Very frequent (80% to 99% of cases)
- Reduced circulating 5-oxoprolinase activityHPOHP:0040142
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Cerebral atrophyHPOHP:0002059
- Occasional (5% to 29% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Occasional (5% to 29% of cases)
- EnterocolitisHPOHP:0004387
- Occasional (5% to 29% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Occasional (5% to 29% of cases)
- Floppy infantHPOHP:0008947
- Occasional (5% to 29% of cases)
- HypoglycemiaHPOHP:0001943
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
Show the remaining 7
- JaundiceHPOHP:0000952
- Occasional (5% to 29% of cases)
- Kidney stoneHPOHP:0000787
- Occasional (5% to 29% of cases)
- Metabolic acidosisHPOHP:0001942
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- Postnatal macrocephalyHPOHP:0005490
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- OPLAHHGNC:8149
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: 5-oxoprolinase deficiency
- Also called
- 5-oxoprolinase deficiency (disease)inborn 5-oxoprolinase (ATP-hydrolyzing) activity disorderinborn error of 5-oxoprolinase (ATP-hydrolyzing) activityoxoprolinuria due to oxoprolinase deficiencyrare inborn error of 5-oxoprolinase (ATP-hydrolyzing) activity