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Pathway Description
Glycerol Kinase Deficiency
Homo sapiens
Disease Pathway
Glycerol Kinase Deficiency (Hyperglycerolemia; Glyceroluria; GK Deficiency; GKD) is a rare metabolic disease caused by a deficiency in the GK gene which codes for glycerol kinase. A deficiency in this enzyme results in accumulation of glycerol in urine and serum. Symptoms include cryptorchism, trabismus, myopathy, lethargy, and vomiting. Treatment includes corticosteroids and acute glucose infusion.
References
Glycerol Kinase Deficiency References
[Uniprot: P32189](http://www.uniprot.org/uniprot/P32189)
[OMIM: Entry 307030](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=307030)
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.47 Heilbronn: SPS Verlagsgesellschaft
Balducci R, Municchi G, Toscano V, Mangiantini A, Sabatini R, Caiola S, Tedeschi B, Orlandi L, Boscherini B: Complex glycerol kinase deficiency: an unusual cause of salt-wasting in males. Clin Endocrinol (Oxf). 1995 Apr;42(4):437-9.
Pubmed: 7750200
Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT: Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep;23(6):529-47.
Pubmed: 11032329
Walker AP, Muscatelli F, Stafford AN, Chelly J, Dahl N, Blomquist HK, Delanghe J, Willems PJ, Steinmann B, Monaco AP: Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet. 1996 Jun;58(6):1205-11.
Pubmed: 8651297
McCabe ER, Seltzer WK: Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity. Adv Exp Med Biol. 1986;194:481-93.
Pubmed: 3019103
Kuwada N, Nagano K, MacLennan N, Havens J, Kumar M, Dipple KM, McCabe ER: Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog. Biochem Biophys Res Commun. 2005 Sep 16;335(1):247-55. doi: 10.1016/j.bbrc.2005.07.066.
Pubmed: 16105550
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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