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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Galactosemia


Other Names for this Disease

  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
  • GALT deficiency
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

References
  1. Genetic Fact Sheets for Parents: Galactosemia. STAR-G. http://www.newbornscreening.info/Parents/otherdisorders/Galactosemia.html. Accessed 5/27/2011.
  2. Galactosemia. Genetics Home Reference. January 2008; http://www.ghr.nlm.nih.gov/condition=galactosemia. Accessed 6/9/2011.


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 clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
Other Names for this Disease
  • Galactose-1-phosphate uridyltransferase deficiency
  • Galactosemia, classic
  • GALT deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.