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References OMIM Gene GeneReviews HGMD HGNC
last update : 16/06/07
Symbol ACAD9D
Location 3q21.3
Name Acyl-CoA dehydrogenase 9 deficiency
Corresponding gene ACAD9
Main clinical features
  • recurrent episodes of acute liver dysfunction and hypoglycemia, cardiomyopathy, with otherwise minor illnesses, with elevated lactate and ketones with dicarboxylic and hydroxydicarboxylic acids in urines
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease