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GENATLAS PHENOTYPE

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