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Pathway Description
D-Glyceric Acidura
Homo sapiens
Disease Pathway
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
[Metagen: D-GLYCERIC ACIDURA](http://metagene.de/program/d.prg?id_d=114)
[OMIM: 220120](http://omim.org/entry/220120})
Sass JO, Fischer K, Wang R, Christensen E, Scholl-Burgi S, Chang R, Kapelari K, Walter M: D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). Hum Mutat. 2010 Dec;31(12):1280-5. doi: 10.1002/humu.21375. Epub 2010 Nov 9.
Pubmed: 20949620
Bonham JR, Stephenson TJ, Carpenter KH, Rattenbury JM, Cromby CH, Pollitt RJ, Hull D: D(+)-glyceric aciduria: etiology and clinical consequences. Pediatr Res. 1990 Jul;28(1):38-41. doi: 10.1203/00006450-199007000-00009.
Pubmed: 2165585
Glycerolipid Metabolism References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Zhang P, Reue K: Lipin proteins and glycerolipid metabolism: Roles at the ER membrane and beyond. Biochim Biophys Acta Biomembr. 2017 Sep;1859(9 Pt B):1583-1595. doi: 10.1016/j.bbamem.2017.04.007. Epub 2017 Apr 11.
Pubmed: 28411173
Kiessling V, Crane JM, Tamm LK: Transbilayer effects of raft-like lipid domains in asymmetric planar bilayers measured by single molecule tracking. Biophys J. 2006 Nov 1;91(9):3313-26. doi: 10.1529/biophysj.106.091421. Epub 2006 Aug 11.
Pubmed: 16905614
Rusinol AE, Cui Z, Chen MH, Vance JE: A unique mitochondria-associated membrane fraction from rat liver has a high capacity for lipid synthesis and contains pre-Golgi secretory proteins including nascent lipoproteins. J Biol Chem. 1994 Nov 4;269(44):27494-502.
Pubmed: 7961664
Nagle CA, An J, Shiota M, Torres TP, Cline GW, Liu ZX, Wang S, Catlin RL, Shulman GI, Newgard CB, Coleman RA: Hepatic overexpression of glycerol-sn-3-phosphate acyltransferase 1 in rats causes insulin resistance. J Biol Chem. 2007 May 18;282(20):14807-15. doi: 10.1074/jbc.M611550200. Epub 2007 Mar 27.
Pubmed: 17389595
Helenius J, Ng DT, Marolda CL, Walter P, Valvano MA, Aebi M: Translocation of lipid-linked oligosaccharides across the ER membrane requires Rft1 protein. Nature. 2002 Jan 24;415(6870):447-50. doi: 10.1038/415447a.
Pubmed: 11807558
Alaimo C, Catrein I, Morf L, Marolda CL, Callewaert N, Valvano MA, Feldman MF, Aebi M: Two distinct but interchangeable mechanisms for flipping of lipid-linked oligosaccharides. EMBO J. 2006 Mar 8;25(5):967-76. doi: 10.1038/sj.emboj.7601024. Epub 2006 Feb 23.
Pubmed: 16498400
van Meer G, Voelker DR, Feigenson GW: Membrane lipids: where they are and how they behave. Nat Rev Mol Cell Biol. 2008 Feb;9(2):112-24. doi: 10.1038/nrm2330.
Pubmed: 18216768
Baumann NA, Sullivan DP, Ohvo-Rekila H, Simonot C, Pottekat A, Klaassen Z, Beh CT, Menon AK: Transport of newly synthesized sterol to the sterol-enriched plasma membrane occurs via nonvesicular equilibration. Biochemistry. 2005 Apr 19;44(15):5816-26. doi: 10.1021/bi048296z.
Pubmed: 15823040
Sud M, Fahy E, Cotter D, Brown A, Dennis EA, Glass CK, Merrill AH Jr, Murphy RC, Raetz CR, Russell DW, Subramaniam S: LMSD: LIPID MAPS structure database. Nucleic Acids Res. 2007 Jan;35(Database issue):D527-32. doi: 10.1093/nar/gkl838. Epub 2006 Nov 10.
Pubmed: 17098933
Henry SA, Kohlwein SD, Carman GM: Metabolism and regulation of glycerolipids in the yeast Saccharomyces cerevisiae. Genetics. 2012 Feb;190(2):317-49. doi: 10.1534/genetics.111.130286.
Pubmed: 22345606
Oelkers P, Cromley D, Padamsee M, Billheimer JT, Sturley SL: The DGA1 gene determines a second triglyceride synthetic pathway in yeast. J Biol Chem. 2002 Mar 15;277(11):8877-81. doi: 10.1074/jbc.M111646200. Epub 2001 Dec 18.
Pubmed: 11751875
Gaspar ML, Hofbauer HF, Kohlwein SD, Henry SA: Coordination of storage lipid synthesis and membrane biogenesis: evidence for cross-talk between triacylglycerol metabolism and phosphatidylinositol synthesis. J Biol Chem. 2011 Jan 21;286(3):1696-708. doi: 10.1074/jbc.M110.172296. Epub 2010 Oct 23.
Pubmed: 20972264
Gaspar ML, Aregullin MA, Jesch SA, Henry SA: Inositol induces a profound alteration in the pattern and rate of synthesis and turnover of membrane lipids in Saccharomyces cerevisiae. J Biol Chem. 2006 Aug 11;281(32):22773-85. doi: 10.1074/jbc.M603548200. Epub 2006 Jun 15.
Pubmed: 16777854
Gaspar ML, Jesch SA, Viswanatha R, Antosh AL, Brown WJ, Kohlwein SD, Henry SA: A block in endoplasmic reticulum-to-Golgi trafficking inhibits phospholipid synthesis and induces neutral lipid accumulation. J Biol Chem. 2008 Sep 12;283(37):25735-51. doi: 10.1074/jbc.M802685200. Epub 2008 Jul 9.
Pubmed: 18614533
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