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GTR Home > Conditions/Phenotypes > 2-aminoadipic 2-oxoadipic aciduria


Alpha-aminoadipic and alpha ketoadipic aciduria (AAKAD) is an inborn error of lysine, tryptophan, and hydroxylysine metabolism, which is manifested by the accumulation and excretion of 2-aminoadipic, 2-ketoadipic, and 2-hydroxyadipic acids. [from OMIM]

Available tests

21 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: AAKAD, AMOXAD, CMT2Q, E1a, OADC-E1, OADH-E1, DHTKD1
    Summary: dehydrogenase E1 and transketolase domain containing 1

Clinical features


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