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

Pub. Date : 2012 Dec 7

PMID : 23141293






1 Functional Relationships(s)
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1 Moreover, investigation of L-lysine metabolism showed an accumulation of deuterium-labeled 2-oxoadipate only in noncomplemented cells, demonstrating that DHTKD1 codes for the enzyme mediating the last unresolved step in the L-lysine-degradation pathway. Deuterium dehydrogenase E1 and transketolase domain containing 1 Homo sapiens