- 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
Your QuestionMy newborn baby was diagnosed with galactosemia. Please tell me what I should do.
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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.
- Newborn Screening and Galactosemia. Ask the Geneticist. 2006; http://genetics.emory.edu/ask/question.php/1198/. Accessed 5/27/2011.
- Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/9/2011.
- Galactosemia. MedlinePlus. April 2009; http://www.nlm.nih.gov/medlineplus/ency/article/000366.htm. Accessed 5/27/2011.