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D-Glyceric acidemia

Field	Value
synonyms	D-glycerate kinase deficiency
name	D-Glyceric acidemia
image	Autosomal recessive - en.svg
caption	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.

Presentation

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 (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.

Diagnosis

Differential diagnosis

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').

Treatment

References

(May 2003). "Biochem. J. (2003) 371, 653-661 - T.J. de Koning and others - l-Serine in disease and development". Biochemical Journal.
(1993). "Inborn errors of fructose metabolism". Am J Clin Nutr.
"GLYCTK - glycerate kinase - Genetics Home Reference".
"GeneTests: Search Results".
(2003). "Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases". Springer.
"# 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2".
(1993). "GeneReviews®". University of Washington, Seattle.
"OMIM Entry - * 604296 - GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

amino-acid-metabolism-disorders rare-diseases

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