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Pathway Description
Galactosemia II (GALK)
Mus musculus
Category:
Metabolite Pathway
Sub-Category:
Disease
Created: 2018-09-10
Last Updated: 2019-09-15
Galactokinase deficiency also called Galactosemia type II, is a rare inborn error of metabolism (IEM) and an autosomal recessive disorder of galactokinase caused by a mutation in the GALK1 gene on chromosome 17q24. Galactokinase uses 1 ATP to catalyse the phosphorylation of α-D-galactose to galactose 1-phosphate and catalyses β-D-galactose to glucose 1-phosphate. Symptoms include cataract formation in children who are exposed to lactose in their diets. Cataract formation is the result of osmotic phenomena caused by the accumulation of galactitol in the lens. Treatment includes immediately removing lactose from patient’s diet, however symptoms such as delayed speech, cognitive learning and motor skills can still be present.
References
Galactosemia II (GALK) References
Cook JG, Don NA, Mann TP: Hereditary galactokinase deficiency. Arch Dis Child. 1971 Aug;46(248):465-9.
Pubmed: 5109408
Ai Y, Zheng Z, O'Brien-Jenkins A, Bernard DJ, Wynshaw-Boris T, Ning C, Reynolds R, Segal S, Huang K, Stambolian D: A mouse model of galactose-induced cataracts. Hum Mol Genet. 2000 Jul 22;9(12):1821-7.
Pubmed: 10915771
Nucleotide Sugars 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.
Ishimura-Oka K, Nakamuta M, Chu MJ, Sullivan M, Chan L, Oka K: Partial structure of the mouse glucokinase gene. Genomics. 1995 Oct 10;29(3):751-4.
Pubmed: 8575769
Postic C, Niswender KD, Decaux JF, Parsa R, Shelton KD, Gouhot B, Pettepher CC, Granner DK, Girard J, Magnuson MA: Cloning and characterization of the mouse glucokinase gene locus and identification of distal liver-specific DNase I hypersensitive sites. Genomics. 1995 Oct 10;29(3):740-50. doi: 10.1006/geno.1995.9943.
Pubmed: 8575768
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Pubmed: 15489334
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Pubmed: 16141072
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
Fuchs S, Resch K, Thiel C, Ulbrich M, Platzer M, Jockusch H, Schmitt-John T: Comparative transcription map of the wobbler critical region on mouse chromosome 11 and the homologous region on human chromosome 2p13-14. BMC Genet. 2002 Aug 13;3:14. Epub 2002 Aug 13.
Pubmed: 12174196
Spicer AP, Kaback LA, Smith TJ, Seldin MF: Molecular cloning and characterization of the human and mouse UDP-glucose dehydrogenase genes. J Biol Chem. 1998 Sep 25;273(39):25117-24. doi: 10.1074/jbc.273.39.25117.
Pubmed: 9737970
Garcia-Garcia MJ, Anderson KV: Essential role of glycosaminoglycans in Fgf signaling during mouse gastrulation. Cell. 2003 Sep 19;114(6):727-37. doi: 10.1016/s0092-8674(03)00715-3.
Pubmed: 14505572
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
Leslie ND, Immerman EB, Flach JE, Florez M, Fridovich-Keil JL, Elsas LJ: The human galactose-1-phosphate uridyltransferase gene. Genomics. 1992 Oct;14(2):474-80.
Pubmed: 1427861
Ai Y, Zheng Z, O'Brien-Jenkins A, Bernard DJ, Wynshaw-Boris T, Ning C, Reynolds R, Segal S, Huang K, Stambolian D: A mouse model of galactose-induced cataracts. Hum Mol Genet. 2000 Jul 22;9(12):1821-7. doi: 10.1093/hmg/9.12.1821.
Pubmed: 10915771
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 SMP0000495
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