Other Names for this Disease
- Galactose-1-phosphate uridyltransferase deficiency
- Galactosemia, classic
- GALT deficiency
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
- Glycogen storage disease type 9B
What are the signs and symptoms of galactosemia?
How is galactosemia diagnosed?
How might galactosemia be treated?
There are different types of galactosemia: classic galactosemia (also known as type I and is the most common and most severe form of the condition), galactosemia type II (also called galactokinase deficiency), and type III (also called galactose epimerase deficiency). The different types of galactosemia is caused by mutations in the GALT, GALE, and GALK1 genes and is inherited in an autosomal recessive fashion.
Galactosemia type II causes fewer medical problems than the classic type. Affected infants may develop cataracts, but otherwise usually experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.
Because the body also makes some galactose, symptoms cannot be completely avoided by removing all lactose and galactose from the diet. Researchers are working on finding a treatment to lower the amount of galactose made by the body, but there is no effective method to do so at this time.
The Screening, Technology, and Research in Genetics (STAR-G) Project is a US-based organization that provides information on newborn screening. They provide comprehensive information for treatment on galactosemia. To view this information, click here.
- Genetic Fact Sheets for Parents: Galactosemia. STAR-G. http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html. Accessed 5/27/2011.
- Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/9/2011.
- Elsas LJ. Galactosemia. GeneReview. October 2010; http://www.ncbi.nlm.nih.gov/books/NBK1518/. Accessed 5/27/2011.
- Galactosemia. MedlinePlus. April 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm. Accessed 5/27/2011.