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Pathway Description
Glycerol Kinase Deficiency
Homo sapiens
Disease Pathway
Created: 2013-08-19
Last Updated: 2022-11-25
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)
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Pubmed: 7750200
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Pubmed: 11032329
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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
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Pubmed: 16105550
Glycerolipid Metabolism References
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Pubmed: 16905614
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Pubmed: 15823040
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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
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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
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
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Pubmed: 20949620
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Pubmed: 15498874
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Pubmed: 8435445
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Pubmed: 2492527
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Pubmed: 2498333
Guo W, Worley K, Adams V, Mason J, Sylvester-Jackson D, Zhang YH, Towbin JA, Fogt DD, Madu S, Wheeler DA, et al.: Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet. 1993 Aug;4(4):367-72. doi: 10.1038/ng0893-367.
Pubmed: 8401584
Sargent CA, Young C, Marsh S, Ferguson-Smith MA, Affara NA: The glycerol kinase gene family: structure of the Xp gene, and related intronless retroposons. Hum Mol Genet. 1994 Aug;3(8):1317-24. doi: 10.1093/hmg/3.8.1317.
Pubmed: 7987308
Sargent CA, Kidd A, Moore S, Dean J, Besley GT, Affara NA: Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation. J Med Genet. 2000 Jun;37(6):434-41. doi: 10.1136/jmg.37.6.434.
Pubmed: 10851254
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Pubmed: 24549054
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Pubmed: 7772607
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Pubmed: 14702039
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Pubmed: 2175712
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Pubmed: 16541075
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Pubmed: 9461603
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