Autozomálně recesivní
Caused by changes in both copies of DHTKD1, which makes part of the enzyme complex that processes 2-oxoadipic acid, a step in lysine and tryptophan breakdown. Reduced enzyme activity leads to a build-up of 2-aminoadipic and 2-oxoadipic acids.
Příznaky a projevy
Raised levels of 2-aminoadipic and 2-oxoadipic acids define the condition. Varying neurological symptoms have been reported, but the sources do not say how common each symptom is or whether all affected people have them.
Co se diagnózou změní
No specific treatment is described in the sources, so care is guided by any symptoms present. Genetic counselling can explain the recessive inheritance, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
alpha-aminoadipic aciduria; alpha-aminoadipic and alpha-ketoadipic aciduria; AMOXAD; Ketoadipicaciduria
