|OBO ID: DOID:0050710|
|Term Name:||3-Methylcrotonyl-CoA carboxylase deficiency||Search Ontology:|
|Definition:||An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (2)|
|Ontology:||Human Disease (DOID:0050710)|
OTHER 3-Methylcrotonyl-CoA carboxylase deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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