Title : DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

Pub. Date : 2012 Dec 7

PMID : 23141293






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 All together, our results establish mutations in DHTKD1 as a cause of human 2-aminoadipic and 2-oxoadipic aciduria via impaired turnover of decarboxylation 2-oxoadipate to glutaryl-CoA. glutaryl-coenzyme A dehydrogenase E1 and transketolase domain containing 1 Homo sapiens