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References OMIM Gene GeneReviews HGMD HGNC
last update : 12-01-2013
Symbol AAOA
Location 10p14
Name 2-aminoadipic and 2-oxoadipic aciduria
Corresponding gene DHTKD1
Main clinical features
  • more than half of patients are asymptomatic, whereas others have developed mild to severe intellectual disability, muscular hypotonia, developmental delay, ataxia, and epilepsy
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    Type disease
    Remark(s) mutation leading to reduced DHTKD1 activity is responsible for 2-aminoadipic and 2-oxoadipic aciduria