3-Methylcrotonylglycinuria

Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement, to unspecific developmental delay and asymptomatic adults. Acute metabolic crisis follows a minor infection or introduction of a protein-rich diet. Symptoms include vomiting, opisthotonus, involuntary movements, seizures, coma and apnoea, and are often accompanied by severe hypoglycemia, ketoacidosis and mild hyperammonemia. The patients usually respond to intravenous fluids and cessation of protein feeding and are asymptomatic between acute episodes. (Source: Orphanet)

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