- D-Glyceric acidemia
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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 the for the enzyme glycerate kinase.
Contents
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 break-down 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.[1]
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 [2]), which is associated with mutations in the GRHPR (encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase') [3][4].
References
- ^ "Biochem. J. (2003) 371, 653-661 - T.J. de Koning and others - l-Serine in disease and development". http://www.biochemj.org/bj/371/0653/bj3710653.htm.
- ^ "Inborn errors of fructose metabolism — Am J Clin Nutr". http://www.ajcn.org/content/58/5/788S.
- ^ "GLYCTK - glycerate kinase - Genetics Home Reference". http://ghr.nlm.nih.gov/gene/GLYCTK.
- ^ "GeneTests: Search Results". http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/22208?db=genetests.
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) [5] (information on D-glyceric acidemia and the GLYCTK gene)
- OMIM [6] (information on GLYCTK gene, encoding Glycerate Kinase)
- GeneTests [7] (information on genetic testing for D-Glyceric Acidemia)
Inborn error of amino acid metabolism (E70–E72, 270) K→acetyl-CoA Lysine/straight chainHypertryptophanemiaG G→pyruvate→citrateG→glutamate→
α-ketoglutarateGlutamate/glutamineG→fumarateType II tyrosinemia · Type III tyrosinemia/Hawkinsinuria · Alkaptonuria/Ochronosis · Type I tyrosinemiaTransport/
IE of RTTOther Categories:- Amino acid metabolism disorders
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