Medicine:Alpha-aminoadipic and alpha-ketoadipic aciduria
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Revision as of 11:24, 11 November 2021 by imported>JTerm (correction)
| Alpha-aminoadipic and alpha-ketoadipic aciduria | |
|---|---|
| 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]
References
- ↑ "DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria". American Journal of Human Genetics 91 (6): 1082–7. Dec 2012. doi:10.1016/j.ajhg.2012.10.006. PMID 23141293.
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