D-Glyceric acidemia
Other names	D-glycerate kinase deficiency
This condition is inherited in an autosomal recessive manner.

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

D-Glyceric acidemia should not be confused with L-Glyceric acidemia (a.k.a. L-glyceric aciduria, a.k.a. primary hyperoxaluria type II^[6]), which is associated with mutations in the GRHPR (encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase').^[7][8]

Diagnosis

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References

External links

• 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)