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D-Glyceric acidemia
D-Glyceric Acidemia (a.k.a. D-Glyceric Aciduria) is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation in the gene ''GLYCTK'', which encodes the for the enzyme ''glycerate kinase''.
==Pathophysiology==
Glycerate kinase is an enzyme that catalyzes the conversion of D-glyceric acid (a.k.a. D-glycerate) to 2-phosphoglycerate. This conversion is an intermediary reaction found in several metabolic pathways, including the degradation (break-down; catabolism) of serine,〔(【引用サイトリンク】title=Biochem. J. (2003) 371, 653-661 - T.J. de Koning and others - l-Serine in disease and development )〕 as well as the breakdown of fructose.
A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid (a.k.a. D-glycerate) in bodily fluids and tissues. D-glyceric acid can be measured in a laboratory that performs "analyte testing" for "organic acids" in blood (plasma) and urine.
Symptoms of the disease (in its most severe form) include progressive neurological impairment, mental/motor retardation, hypotonia, seizures, failure to thrive and metabolic acidosis.〔()〕
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