D-Glyceric acidemia explained

Synonyms:D-glycerate kinase deficiency
D-Glyceric acidemia

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]

External links

Notes and References

  1. Biochem. J. (2003) 371, 653-661 - T.J. de Koning and others - l-Serine in disease and development . Biochemical Journal . 371 . 3 . 653–661 . 10.1042/bj20021785 . 12534373 . 1223326 . May 2003 . Surtees . Robert . Poll-The . Bwee-Tien . Berger . Ruud . Duran . Marinus . Snell . Keith . Koning . Tom J. de .
  2. Inborn errors of fructose metabolism . Am J Clin Nutr . 58 . 5 . 788S–795S . 10.1093/ajcn/58.5.788S . 8213611 . 1993 . Hommes . F. A. . free .
  3. Web site: GLYCTK - glycerate kinase - Genetics Home Reference .
  4. Web site: GeneTests: Search Results .
  5. Book: Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 9783642627095. Springer. 2003.
  6. Web site: # 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2 . 2023-10-05 . OMIM.
  7. Book: https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ph2 . GeneReviews®. Primary Hyperoxaluria Type 2. University of Washington, Seattle. 1993.
  8. Web site: OMIM Entry - * 604296 - GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR .