- Galactose-1-phosphate uridyltransferase deficiency
- GALT deficiency
- Galactosemia, classic
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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.
Basically, any food or beverage or medication containing galactose or lactose should be avoided by the patients with galactosemia.The main source of galactose is from the lactose contained in the diet.
Sucralose is an artificial sweetener. During processing, sucrose (sugar) is broken down to a compound that has the word galactose in it, but it is not broken down to simple galactose, therefore it is acceptable for patients with galactosemia.
The following guide offered by the e Biochemical Genetics Program, Waisman Center University of Wisconsin-Madison entitled: Understanding Galactosemia - A Diet Guide has detailed information about diet management, galactose content of foods, medicines and supplements, and tools for day-to-day food choices and meal planning.
- Genetic Fact Sheets for Parents: Galactosemia. STAR-G. http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html.
- Galactosemia. Genetics Home Reference. August, 2015; http://www.ghr.nlm.nih.gov/condition=galactosemia.
- Sutton RV. Galactosemia: Management and outcome. UpToDate. March 24, 2014; http://www.uptodate.com/contents/galactosemia-management-and-outcome?source=search_result&search=galactosemia&selectedTitle=2%7E47. Accessed 6/25/2015.
- Gleason L, Rasberry M & van Calcar S. Biochemical Genetics Program, Waisman Center. University of Wisconsin-Madison. 2010; http://galactosemia.org/PDFs/UnderstandingGalactosemiaDietGuide3.pdf. Accessed 6/25/2015.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.