Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria

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Retrieved

2021-01-18

Source

Wikipedia

Trials

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Genes

DHTKD1

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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).