DISEASES

Disease-gene associations mined from literature

Human genes for 3-Methylcrotonyl-CoA carboxylase deficiency

3-Methylcrotonyl-CoA carboxylase deficiency [DOID:0050710]

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.

Synonyms:  3-Methylcrotonyl-CoA carboxylase deficiency,  3MethylcrotonylCoA carboxylase deficiency,  DOID:0050710,  3MCC deficiency,  3-Methylcrotonylglycinuria ...

Linkouts:  OMIM #1 #2