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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Galactosemia

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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might galactosemia be treated?

When treatment starts before a baby is 10 days old, there is a much better chance for normal growth, development and intelligence.[1] Affected individuals must avoid all milk, milk-containing products (including dry milk), and other foods that contain galactose for life. It is essential to read product labels and be an informed consumer. Infants can be fed with soy formula, meat-based formula or Nutramigen (a protein hydrolysate formula), or another lactose-free formula. Calcium supplements are also recommended.[2] 

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.[1]

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.

Last updated: 5/27/2011

Should sucralose or other sugars be avoided by patients affected with galactosemia?

Sugars that are simple are known as monosaccharides and include glucose, galactose and fructose. When the sugar contain two monosaccharides is called disaccharide. The didsaccharides include sucrose (formed by glucose and fructose), maltose (formed by two glucoses) and lactose (formed by galactose and glucose).

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.[3]

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.[4]

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.
Last updated: 6/25/2015

References
  1. Genetic Fact Sheets for Parents: Galactosemia. STAR-G. http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html. Accessed 6/25/2015.
  2. Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/25/2015.
  3. 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.
  4. 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.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

Management Guidelines

  • 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. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Galactosemia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 
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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.