Stephen J. Schueler, M.D.

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Inability to Digest Galactose Overview

Another name for Inability to Digest Galactose is Galactosemia.

What is galactosemia?
A person with galactosemia has a rare inherited illness caused by the lack of the enzyme, galactose transferase. The body needs galactose transferase to breakdown the sugar, galactose. Galactose is found in human breast milk, dairy products, and some vegetables. Newborn babies are routinely tested for galactosemia because the absence of this enzyme can cause mental retardation, liver disease, kidney disease and cataracts.

What are the symptoms of galactosemia?
An infant born with galactosemia will develop symptoms if he or she receives breast milk or milk-based formula. Symptoms of galactosemia include diarrhea, vomiting, jaundice, lethargy, irritability, and seizures.

How does the doctor treat galactosemia?
The treatment of galactosemia involves avoiding galactose in the diet for the rest of a person's life. Treatment for galactosemia includes the strict avoidance of dairy products and the use of soy-based formula in the infant with galactosemia.

Continue to Inability to Digest Galactose Incidence

Last Updated: Aug 26, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Inability to Digest Galactose References
  1. Bosch AM, Grootenhuis MA, Bakker HD, Heijmans HS, Wijburg FA, Last BF. Living with classical galactosemia: health-related quality of life consequences. Pediatrics. 2004 May;113(5):e423-8. [15121984]
  2. Elsas LJ 2nd, Lai K. The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-8. [11261429]
  3. Widhalm K, Miranda da Cruz BD, Koch M. Diet does not ensure normal development in galactosemia. J Am Coll Nutr. 1997 Jun;16(3):204-8. [9176825]
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