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Galactokinase deficiency
Other Names for this Disease
- Galactosemia 2
- GALK deficiency
- Hereditary galactokinase deficiency
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Overview
Galactokinase deficiency, or galactosemia type 2, is a type of 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.[1]
References
- Galactosemia. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed June 9, 2011.
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General Information
- Genetics Home Reference (GHR) contains information on Galactokinase deficiency. Click on the link to go to GHR and review the information.
- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Galactokinase deficiency. Click on the link to view a sample search on this topic.
- The 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.