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Pathway Description
D-Glyceric Acidura
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
D-Glyceric aciduria is an extremely rare inherited inborn error of metabolism (IEM) of serine and fructose metabolism. It is an autosomal recessive disorder that is caused by a defect in the D-glycerate kinase (GLYCTK) gene. GLYCTK codes for D-glycerate kinase, an enzyme that is responsible for phosphorylating D-glyceric acid into phosphoglycerate. D-Glycerate kinase is an enzyme that participates in 3 metabolic pathways: (1) serine/glycine/threonine metabolism, (2) glycerolipid metabolism, and (3) glyoxylate-dicarboxylate metabolism (which is a minor pathway in fructose metabolism). Defects in the enzyme will lead to accumulations of D-glyceric acid in tissues and biofluids. D-Glyceric aciduria was first described in 1974 and is characterized by elevated levels of D-glyceric acid in the urine. Clinical symptoms of D-glyceric aciduria are highly variable. Some patients have neurological symptoms, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development.
References
D-Glyceric Acidura References
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Pubmed: 2165585
Glycerolipid Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
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Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
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This pathway was propagated using PathWhiz -
Pon, A. et al. Pathways with PathWhiz (2015) Nucleic Acids Res. 43(Web Server issue): W552–W559.
Propagated from SMP0000529
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