Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
3-hydroxyisovaleric aciduria
Always present (100%)HP:0033111
Elevated urinary 3-methylcrotonylglycine level
Always present (100%)HP:0033596
Mental and motor retardation
Always present (100%)HP:0001263
Abnormal circulating leucine concentration
Very frequent (80-99%)HP:0004357
Low blood sugar
Very frequent (80-99%)HP:0001943
Muscular hypotonia
Very frequent (80-99%)HP:0001252
Organic aciduria
Very frequent (80-99%)HP:0001992
Abnormality of movement
Frequent (30-79%)HP:0100022
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
High blood ammonia levels
Frequent (30-79%)HP:0001987
Abnormality of the cerebral blood vessels
Occasional (5-29%)HP:0100659
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Respiratory insufficiency
Occasional (5-29%)HP:0002093
Acute hepatic steatosis
HP:0006573
Acute hyperammonemia
HP:0008281
Apnea
HP:0002104
Arc de cercle
HP:0002179
Episodic metabolic acidosis
HP:0004911
Feeding difficulties in infancy
HP:0008872
Generalised decreased muscle tone
HP:0001290
Increased reflexes
HP:0001347
Ketonaciduria
HP:0002919
Mental-retardation
HP:0001249
Persistent vegetative state
HP:0001259
Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts
HP:4000206
Seizures
HP:0001250
Torpor
HP:0001254
Undergrowth
HP:0001508
Vomiting
HP:0002013
Quick Facts
- SNOMED CT
- 13144005
- UMLS CUI
- C4551505
- Fully Specified Name
- Methylcrotonyl-coenzyme A carboxylase deficiency (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.