D-Glyceric acidemia
D-Glyceric Acidemia is an inherited disease, in the category of inborn errors of metabolism. It is caused by a mutation in the gene GLYCTK, which encodes for the enzyme glycerate kinase.
Pathophysiology
Glycerate kinase is an enzyme that catalyzes the conversion of D-glyceric acid to 2-phosphoglycerate. This conversion is an intermediary reaction found in several metabolic pathways, including the degradation of serine, as well as the breakdown of fructose.A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid in bodily fluids and tissues. D-glyceric acid can be measured in a laboratory that performs analyte testing for organic acids in blood and urine.
Symptoms of the disease include progressive neurological impairment, mental/motor retardation, hypotonia, seizures, failure to thrive and metabolic acidosis.