Alpha-aminoadipic and alpha-ketoadipic aciduria (AAKAD) is an autosomal recessive inborn error of lysine, hydroxylysine, and tryptophan degradation. This disease is associated with varying neurological symptoms. DHTKD1 mutations have been reported in patients. DHTKD1 encodes the E1 subunit of the alpha-ketoadipic acid dehydrogenase complex.
Hagen J, te Brinke H, Wanders RJ, Knegt AC, Oussoren E, Hoogeboom AJ, Ruijter GJ, Becker D, Schwab KO, Franke I, Duran M, Waterham HR, Sass JO, Houten SM
タイトル
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
