D-Glyceric acidemia
| D-Glyceric acidemia | |
|---|---|
| Classification and external resources | |
| OMIM | 220120 |
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,[1] as well as the breakdown of fructose.[2]
A deficiency in glycerate kinase activity leads to the accumulation of D-glyceric acid (a.k.a. D-glycerate) in bodily fluids and tissues.[3] D-glyceric acid can be measured in a laboratory that performs "analyte testing" for "organic acids" in blood (plasma) and urine.[4]
Symptoms of the disease (in its most severe form) include progressive neurological impairment, mental/motor retardation, hypotonia, seizures, failure to thrive and metabolic acidosis.[5]
Related conditions
NOTE: 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').[6][7]
References
External links
Information regarding D-Glyceric Acidemia and other inherited disorders is constantly changing, with new advances in the understanding of disease mechanisms. For the most up-to-date information on this disorder, the following sites are updated on a fairly regular basis:
- Genetics Home Reference (National Library of Medicine) (information on D-glyceric acidemia and the GLYCTK gene)
- OMIM (information on GLYCTK gene, encoding Glycerate Kinase)
- GeneTests (information on genetic testing for D-Glyceric Acidemia)