MOLECULE

2-aminoadipic 2-oxoadipic aciduria

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.