D-Glyceric acidemia

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D-Glyceric acidemia
Other namesD-glycerate kinase deficiency
Autosomal recessive - en.svg
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 .

Contents

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, [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

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 [6] ), which is associated with mutations in the GRHPR (encoding for the enzyme 'glyoxylate reductase/hydroxypyruvate reductase'). [7] [8]

Treatment

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ "GLYCTK - glycerate kinase - Genetics Home Reference". Archived from the original on September 27, 2012.
  4. ↑ "GeneTests: Search Results". Archived from the original on July 12, 2023.
  5. ↑ Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer. 2003. ISBN   9783642627095.
  6. ↑ "# 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2". OMIM . Retrieved 2023-10-05.
  7. ↑ 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.
  8. ↑ "OMIM Entry - * 604296 - GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR".
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