Overview
Isobutyric aciduria 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.
Decreased plasma carnitine
Frequent (30-79%)HP:0003234
Dicarboxylic aciduria
Frequent (30-79%)HP:0003215
Elevated circulating acylcarnitine concentration
Frequent (30-79%)HP:0045045
Dehydration
Occasional (5-29%)HP:0001944
Ketotic hypoglycemia
Occasional (5-29%)HP:0012734
Muscular hypotonia
Occasional (5-29%)HP:0001252
Psychomotor retardation, mild
Occasional (5-29%)HP:0011342
Pulmonary stenosis
Occasional (5-29%)HP:0001642
Speech delay
Occasional (5-29%)HP:0000750
Stretched and thinned heart muscle
Occasional (5-29%)HP:0001644
Vomiting
Occasional (5-29%)HP:0002013
Low number of red blood cells or haemoglobin
HP:0001903
Quick Facts
- SNOMED CT
- 1306747001
- UMLS CUI
- C1969809
- Fully Specified Name
- Isobutyryl-coenzyme A dehydrogenase deficiency disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 12
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.