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Other Names for this Disease
- Galactosemia 2
- GALK deficiency
- Hereditary galactokinase deficiency
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galactosemia that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy. Galactokinase deficiency causes fewer medical problems than the classic type. Affected infants usually develop cataracts, but otherwise experience few long-term complications. This condition is caused by mutations in the GALK1 gene and is inherited in an autosomal recessive fashion.Galactokinase deficiency, or galactosemia type 2, is a type of
Last updated: 6/9/2011
- Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/9/2011.
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- Genetics Home Reference (GHR) contains information on Galactokinase deficiency. This website is maintained by the National Library of Medicine.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Galactokinase deficiency. Click on the link to go to OMIM and review these resources.
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