D-glyceric aciduria

Definition:

D-glyceric aciduria is a rare inborn error of serine and fructose metabolism. Most affected individuals have presented with neurological symptoms. It has been reported that mutations in GLYCTK gene encoding D-glycerate kinase cause this disease.

References:

[1]. J R Bonham, et al. D(+)-glyceric aciduria: etiology and clinical consequences. Pediatr Res. 1990 Jul;28(1):38-41. [Content Brief]

[2]. Jörn Oliver Sass, et al. D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). Hum Mutat. 2010 Dec;31(12):1280-5. [Content Brief]

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