Alpha-aminoadipic and alpha-ketoadipic aciduria explained
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| Causes: | Mutations in DHTKD1 |
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]
Notes and References
- Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kölker S . Dec 2012 . DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria . American Journal of Human Genetics . 91 . 6 . 1082–7 . 10.1016/j.ajhg.2012.10.006 . 3516599 . 23141293.
