Article
Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.
Brain & development - 1 Jun 2017
Kalim Attia, Fitzsimons Patricia, Till Claudia, Fernando Malkanthi, Mayne Philip, Sass Jorn Oliver, Crushell Ellen
Abstract excerpt
d-Glyceric aciduria is caused by deficiency in d-glycerate kinase (GK) due to recessive mutations in the GLYCTK gene. GK catalyzes the conversion of d-glycerate to 2-phosphoglycerate which is an intermediary reaction in the catabolism of serine and fructose. Deficiency of GK leads to accumulation of d-glycerate, which may be detected in urine organic acid analysis. Debate exists as to whether this is a benign or...
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