Overview
Glutaryl-CoA oxidase 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.
Glutaricaciduria
Always present (100%)HP:0003150
Abnormality of circulating enzyme level
Very frequent (80-99%)HP:0011021
Abnormality of the cerebral white matter
Occasional (5-29%)HP:0002500
Abnormality of the periventricular white matter
Occasional (5-29%)HP:0002518
Dullness
Occasional (5-29%)HP:0001254
Glutarate acidemia
Occasional (5-29%)HP:0003530
Hyperthyroidism
Occasional (5-29%)HP:0000836
Impulsivity
Occasional (5-29%)HP:0100710
Ketoacidosis
Occasional (5-29%)HP:0001993
Ketonaciduria
Occasional (5-29%)HP:0002919
Postnatal failure to thrive
Occasional (5-29%)HP:0001508
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Sacral dimple
Occasional (5-29%)HP:0000960
Specific learning disability
Occasional (5-29%)HP:0001328
Thyroid goiter
Occasional (5-29%)HP:0000853
Diarrhea
HP:0002014
High blood pressure
HP:0000822
Reduced peroxisomal glutaryl-CoA oxidase activity
HP:0034688
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 238070003
- UMLS CUI
- C0342873
- Fully Specified Name
- Glutaryl-coenzyme A oxidase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.