Preferred Label : 3-methylcrotonylglycinuria;
ICD-11 definition : Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an organic aciduria
due to a disorder of leucine catabolism. The phenotype is variable, ranging from neonatal
onset with severe neurological involvement to asymptomatic adults. Most symptomatic
patients have normal growth and development until presenting with an acute metabolic
crisis between 2 and 33 months of age manifesting as vomiting, opisthotonus, involuntary
movements, seizures, coma and apnoea, and that are often accompanied by severe hypoglycemia,
ketoacidosis and mild hyperammonemia.;
Origin ID : 769681951;
Currated CISMeF NLP mapping
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an organic aciduria
due to a disorder of leucine catabolism. The phenotype is variable, ranging from neonatal
onset with severe neurological involvement to asymptomatic adults. Most symptomatic
patients have normal growth and development until presenting with an acute metabolic
crisis between 2 and 33 months of age manifesting as vomiting, opisthotonus, involuntary
movements, seizures, coma and apnoea, and that are often accompanied by severe hypoglycemia,
ketoacidosis and mild hyperammonemia.
