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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 19/07/2006
Symbol MCCC1
Location 3q25-q27
Name 3-@methylcrotonyl-CoA carboxylase 1 deficiency
Corresponding gene MCCC1
Other symbol(s) MCCD1
Main clinical features
  • variable, usually normal growth and development, presenting, between 12 month and five years of age, an acute episode including vomiting, acidosis and coma ressembling Reye syndrome and associated with urine excretion of 3 hydroxy-iovaleric, 3-methylcrotonylglcine and 3 hydroxy-isovaleric carnitine
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name isolated 3-methylcrotonyl carboxylase deficiency