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Galactosemia is an inherited disorder of galactose metabolism. Individuals with galactosemia are unable to break down galactose, a sugar found primarily in dairy products and some vegetables and legumes. Galactosemia is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, and individuals with galactosemia have mutations in the GALT gene. They also have elevated galactose-1-phosphate, a metabolite of galactose metabolism. Galactosemia affects about 1/10000 individuals and is included in the Washington State newborn screening program.
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