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GENATLAS PHENOTYPE
last update : 19/07/2006
Symbol MCCC2
Location 5q12-q13
Name 3-@methylcrotonyl-CoA carboxylase 2 deficiency 2
Other name(s) methylcrotonylglycinuria, type II
Corresponding gene MCCC2
Main clinical features
  • unexpectedly frequent, presenting typically with acute metabolic acidosis, hypoglycemia and carnitine deficiency, methylcrotonyl glycinuria, no responsive to biotin, normal development with protein restriction and carnitine, some milder cases, discovered by systematic mass spectrometry screening . also cases with seizures, severe generalized muscular hypotonia and progressive psychomotor retardation
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Gene product
    Name methylcrotonyl-coenzyme A carboxylase 2 (beta)