Article
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
Human mutation - 1 Dec 2010
Sass Jörn Oliver, Fischer Kathleen, Wang Raymond, Christensen Ernst, Scholl-Bürgi Sabine, Chang Richard, Kapelari Klaus, Walter Melanie
Abstract excerpt
D-glyceric aciduria is a rare inborn error of serine and fructose metabolism that was first described in 1974. Most affected individuals have presented with neurological symptoms. The molecular basis of D-glyceric aciduria is largely unknown; possible causes that have been discussed are deficiencies of D-glycerate dehydrogenase, triokinase, and D-glycerate kinase. In 1989, van Schaftingen has reported decreased...
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