D-Glyceric acidemia
| 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.
Presentation
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Pathophysiology
[edit]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]
Diagnosis
[edit]Differential diagnosis
[edit]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]
Treatment
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References
[edit]- ^ Surtees, Robert; Poll-The, Bwee-Tien; Berger, Ruud; Duran, Marinus; Snell, Keith; Koning, Tom J. de (May 2003). "Biochem. J. (2003) 371, 653-661 - T.J. de Koning and others - l-Serine in disease and development". Biochemical Journal. 371 (3): 653–661. doi:10.1042/bj20021785. PMC 1223326. PMID 12534373.
- ^ Hommes, F. A. (1993). "Inborn errors of fructose metabolism". Am J Clin Nutr. 58 (5): 788S–795S. doi:10.1093/ajcn/58.5.788S. PMID 8213611.
- ^ "GLYCTK - glycerate kinase - Genetics Home Reference".
- ^ "GeneTests: Search Results".
- ^ Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer. 2003. ISBN 9783642627095.
- ^ "# 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2". OMIM. Retrieved 2023-10-05.
- ^ Adam, M. P.; Feldman, J.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Amemiya, A.; Rumsby, G.; Hulton, S. A. (1993). "Primary Hyperoxaluria Type 2". GeneReviews®. University of Washington, Seattle. PMID 20301742.
- ^ "OMIM Entry - * 604296 - GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR".