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 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, 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 (Blood plasma, 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.

Related conditions

''D''-Glyceric Acidemia should not be confused with ''L''-Glyceric Acidemia (a.k.a. L-glyceric aciduria, a.k.a. primary hyperoxaluria type I

, which is associated with mutations in the ''GRHPR'' (encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase').

Diagnosis

References

External links

* Genetics Home Reference (National Library of Medicine

(information on D-glyceric acidemia and the ''GLYCTK'' gene) * OMI

(information on ''GLYCTK'' gene, encoding Glycerate Kinase) * GeneTest

(information on genetic testing for D-Glyceric Acidemia) {{Amino acid metabolic pathology Amino acid metabolism disorders