| 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://omim.org/entry/210200, http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
3-Methylcrotonylglycinuria [EXACT] 3MCC deficiency [EXACT] BMCC deficiency [EXACT] |
| Parent Relationships |
is_a muscular disease |
| Equivalent Logical Relationships |
amino acid metabolic disorder and disease has location some muscle tissue |
| Subclass Logical Relationships |
has symptom some poor feeding has phenotype some Hypotonia has material basis in some autosomal recessive inheritance has symptom some lethargy has symptom some diarrhea has symptom some vomiting has phenotype some Skeletal muscle atrophy |