| Metadata | |
|---|---|
| ID | DOID:0050710 |
| Name | 3-methylcrotonyl-CoA carboxylase 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. http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency, http://omim.org/entry/210200 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
3-Methylcrotonylglycinuria [EXACT] 3MCC deficiency [EXACT] BMCC deficiency [EXACT] |
| Parent Relationships |
is_a amino acid metabolic disorder is_a muscular disease |