Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated urinary isovalerylglycine level
Always present (100%)HP:6000602
Sweaty foot-like odor
Always present (100%)HP:6001063
Mental and motor retardation
Very frequent (80-99%)HP:0001263
Metabolic acidosis
Very frequent (80-99%)HP:0001942
3-hydroxyisovaleric aciduria
Frequent (30-79%)HP:0033111
Elevated circulating isovalerylcarnitine concentration
Frequent (30-79%)HP:0033447
Elevated serum anion gap
Frequent (30-79%)HP:0031962
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
High blood ammonia levels
Frequent (30-79%)HP:0001987
Ketonaciduria
Frequent (30-79%)HP:0002919
Lacticacidemia
Frequent (30-79%)HP:0003128
Languor
Frequent (30-79%)HP:0001254
Mental-retardation
Frequent (30-79%)HP:0001249
Muscular hypotonia
Frequent (30-79%)HP:0001252
Poor weight gain
Frequent (30-79%)HP:0001508
Seizures
Frequent (30-79%)HP:0001250
Vomiting
Frequent (30-79%)HP:0002013
Abnormal finger chase test
Occasional (5-29%)HP:0001310
Acute pancreatitis
Occasional (5-29%)HP:0001735
Cerebellar haemorrhage
Occasional (5-29%)HP:0011695
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Confusion
Occasional (5-29%)HP:0001289
Delayed language development
Occasional (5-29%)HP:0000750
Delayed motor milestones
Occasional (5-29%)HP:0001270
Hypothermia
Occasional (5-29%)HP:0002045
Low blood calcium levels
Occasional (5-29%)HP:0002901
Tremor
Occasional (5-29%)HP:0001337
Unconsciousness
Occasional (5-29%)HP:0001259
Weight loss
Occasional (5-29%)HP:0001824
Abnormal globus pallidus morphology
Very rare (1-4%)HP:0002453
Quick Facts
- SNOMED CT
- 87827003
- UMLS CUI
- C0268575
- Fully Specified Name
- Isovaleryl-coenzyme A dehydrogenase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.