Alpha-aminoadipic and alpha-ketoadipic aciduria

Alpha-aminoadipic and alpha-ketoadipic aciduria
Alpha-aminoadipic and alpha-ketoadipic aciduria is an autosomal recessive disorder.
SpecialtyEndocrinology
CausesMutations in DHTKD1

Alpha-aminoadipic and alpha-ketoadipic aciduria or 2-Aminoadipic-2-oxoadipic aciduria (AMOXAD) is a rare autosomal recessive metabolic disorder characterized by an increased urinary excretion of alpha-ketoadipic acid and alpha-aminoadipic acid. It is caused by mutations in DHTKD1, which encodes the E1 subunit of the oxoglutarate dehydrogenase complex (alpha-ketoglutarate dehydrogenase complex).

It is caused by defects in the degradation of the amino acids lysine and tryptophan. It is classified as an organic aciduria. The condition leads to the accumulation of these metabolites in blood and urine.

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