|Other names: D-glycerate kinase deficiency|
|This condition is inherited in an autosomal recessive manner.|
D-Glyceric acidemia (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 for the enzyme glycerate kinase.
Signs and symptoms
The presentation of D-glyceric aciduria is consistent with the following:
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, 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.
D-Glyceric Acidemia should not be confused with L-Glyceric Acidemia (a.k.a. L-glyceric aciduria, a.k.a. primary hyperoxaluria type II ), which is associated with mutations in the GRHPR (encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase').
The medical literature indicates there is no current effective treatment, though a fructose-restricted diet has demonstrated a clinical improvement in affected individuals
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- Genetics Home Reference (National Library of Medicine)  Archived 2020-09-18 at the Wayback Machine (information on D-glyceric acidemia and the GLYCTK gene)
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- GeneTests  Archived 2023-07-12 at the Wayback Machine (information on genetic testing for D-Glyceric Acidemia)