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Pathway Description
Galactosemia II (GALK)
Mus musculus
Disease Pathway
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.
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 PW000471
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