Term Name: | 3-methylcrotonyl-CoA carboxylase deficiency |
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Synonyms: | 3-Methylcrotonylglycinuria, 3MCC deficiency, BMCC deficiency |
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. |
Ontology: | Human Disease [DOID:0050710] ( DOID:0050710 ) |