Medicine:D-Glyceric acidemia

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D-Glyceric acidemia
Other namesD-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

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. 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. http://www.ajcn.org/content/58/5/788S. 
  3. ↑ "GLYCTK - glycerate kinase - Genetics Home Reference". http://ghr.nlm.nih.gov/gene/GLYCTK. 
  4. ↑ "GeneTests: Search Results". https://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/22208?db=genetests. 
  5. ↑ Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer. 2003. ISBN 9783642627095. https://www.springer.com/life+sciences/biochemistry+%26+biophysics/book/978-3-540-42542-7. 
  6. ↑ "# 260000 HYPEROXALURIA, PRIMARY, TYPE II; HP2". https://omim.org/search?index=entry&start=1&limit=10&search=omim/260000&sort=score+desc&field=number. 
  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. https://www.ncbi.nlm.nih.gov/books/NBK2692/. 
  8. ↑ "OMIM Entry - * 604296 - GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE; GRHPR". https://omim.org/search?index=entry&start=1&limit=10&search=omim/604296&sort=score+desc&field=number. 
Classification
External resources
  • Genetics Home Reference (National Library of Medicine) [1] (information on D-glyceric acidemia and the GLYCTK gene)
  • OMIM [2] (information on GLYCTK gene, encoding Glycerate Kinase)
  • GeneTests [3] (information on genetic testing for D-Glyceric Acidemia)



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