3-methylcrotonyl-CoA carboxylase deficiency

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 with symptoms of muscular hypotonia (weak muscle tone), with

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 with symptoms of muscular hypotonia (weak muscle tone), with symptoms of muscular atrophy, with symptoms of feeding difficulties, with symptoms of recurrent episodes of vomiting and diarrhea, and with symptoms of lethargy.

Also known as: 3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency