Overview
5-Oxoprolinase deficiency is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
5-oxoprolinase deficiency
Very frequent (80-99%)HP:0040142
Elevated urine 5-oxoproline
Very frequent (80-99%)HP:0410132
Cognitive delay
Frequent (30-79%)HP:0001263
Central hypotonia
Occasional (5-29%)HP:0001252
Decreased size of cranium
Occasional (5-29%)HP:0000252
Enterocolitis
Occasional (5-29%)HP:0004387
Epilepsy
Occasional (5-29%)HP:0001250
Excessive daytime somnolence
Occasional (5-29%)HP:0001262
Feeding difficulties in infancy
Occasional (5-29%)HP:0008872
Hypotonia, early
Occasional (5-29%)HP:0008947
Kidney stones
Occasional (5-29%)HP:0000787
Low blood sugar
Occasional (5-29%)HP:0001943
Macrocephaly, postnatal
Occasional (5-29%)HP:0005490
Metabolic acidosis
Occasional (5-29%)HP:0001942
Poor weight gain
Occasional (5-29%)HP:0001508
Speech and language difficulties
Occasional (5-29%)HP:0000750
Squint
Occasional (5-29%)HP:0000486
Supratentorial atrophy
Occasional (5-29%)HP:0002059
Yellowing of the skin
Occasional (5-29%)HP:0000952
Abdominal discomfort
HP:0002027
Calcium oxalate kidney stones
HP:0008672
Diarrhea
HP:0002014
Proline high in urine
HP:0003137
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 26132002
- UMLS CUI
- C0268525
- Fully Specified Name
- 5-Oxoprolinase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.