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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/02/2006
Symbol ACACA
Location 17q21
Name Acetyl-CoA carboxylase deficiency
Corresponding gene ACACA
Main clinical features
  • hypotonic myopathy and neurologic damage with excreted urinary metabolites of hexanoic acid, including 2-ethyl-3-keto-hexanoic acid, 2-ethyl-3-hydroxy-hexanoic acid, and 2-ethyl-hexanedioic acid and deficient ACC activity was found in liver; fibroblasts
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease