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Pathway Description
Glycerol Kinase Deficiency
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-08-16
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
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.
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Pubmed: 16141072
Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. doi: 10.1101/gr.2596504.
Pubmed: 15489334
Guo JH, Hexige S, Chen L, Zhou GJ, Wang X, Jiang JM, Kong YH, Ji GQ, Wu CQ, Zhao SY, Yu L: Isolation and characterization of the human D-glyceric acidemia related glycerate kinase gene GLYCTK1 and its alternatively splicing variant GLYCTK2. DNA Seq. 2006 Feb;17(1):1-7. doi: 10.1080/10425170500476665.
Pubmed: 16753811
Gui T, Tanimoto T, Kokai Y, Nishimura C: Presence of a closely related subgroup in the aldo-ketoreductase family of the mouse. Eur J Biochem. 1995 Jan 15;227(1-2):448-53. doi: 10.1111/j.1432-1033.1995.tb20408.x.
Pubmed: 7851421
McGowan MH, Iwata T, Carper DA: Characterization of the mouse aldose reductase gene and promoter in a lens epithelial cell line. Mol Vis. 1998 Jan 28;4:2.
Pubmed: 9485485
Ho HT, Jenkins NA, Copeland NG, Gilbert DJ, Winkles JA, Louie HW, Lee FK, Chung SS, Chung SK: Comparisons of genomic structures and chromosomal locations of the mouse aldose reductase and aldose reductase-like genes. Eur J Biochem. 1999 Feb;259(3):726-30. doi: 10.1046/j.1432-1327.1999.00110.x.
Pubmed: 10092857
Huq AH, Lovell RS, Sampson MJ, Decker WK, Dinulos MB, Disteche CM, Craigen WJ: Isolation, mapping, and functional expression of the mouse X chromosome glycerol kinase gene. Genomics. 1996 Sep 15;36(3):530-4. doi: 10.1006/geno.1996.0500.
Pubmed: 8884278
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP: Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26.
Pubmed: 19468303
Huttlin EL, Jedrychowski MP, Elias JE, Goswami T, Rad R, Beausoleil SA, Villen J, Haas W, Sowa ME, Gygi SP: A tissue-specific atlas of mouse protein phosphorylation and expression. Cell. 2010 Dec 23;143(7):1174-89. doi: 10.1016/j.cell.2010.12.001.
Pubmed: 21183079
Shin DH, Paulauskis JD, Moustaid N, Sul HS: Transcriptional regulation of p90 with sequence homology to Escherichia coli glycerol-3-phosphate acyltransferase. J Biol Chem. 1991 Dec 15;266(35):23834-9.
Pubmed: 1721057
Clee SM, Yandell BS, Schueler KM, Rabaglia ME, Richards OC, Raines SM, Kabara EA, Klass DM, Mui ET, Stapleton DS, Gray-Keller MP, Young MB, Stoehr JP, Lan H, Boronenkov I, Raess PW, Flowers MT, Attie AD: Positional cloning of Sorcs1, a type 2 diabetes quantitative trait locus. Nat Genet. 2006 Jun;38(6):688-93. doi: 10.1038/ng1796. Epub 2006 May 7.
Pubmed: 16682971
Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A: AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002 May;31(1):21-3. doi: 10.1038/ng880. Epub 2002 Apr 22.
Pubmed: 11967537
Lu B, Jiang YJ, Zhou Y, Xu FY, Hatch GM, Choy PC: Cloning and characterization of murine 1-acyl-sn-glycerol 3-phosphate acyltransferases and their regulation by PPARalpha in murine heart. Biochem J. 2005 Jan 15;385(Pt 2):469-77. doi: 10.1042/BJ20041348.
Pubmed: 15367102
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 SMP0000187
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