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Alpha-aminoadipic and alpha-ketoadipic aciduria
Medical condition From Wikipedia, the free encyclopedia
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Alpha-aminoadipic and alpha-ketoadipic aciduria is an 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).[1]
![]() | It has been suggested that 2-Aminoadipic-2-oxoadipic aciduria be merged into this article. (Discuss) Proposed since July 2025. |
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