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Galactosemia

• Overview
• Symptoms
• Treatment
• Prevention

Alternative Names:

Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-phosphate epimerase deficiency

Prevention:

A personal knowledge of family history is helpful. If there is a family history of galactosemia, genetic counseling will help prospective parents make decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other members of the family.

Many states have mandatory screening of newborns for galactosemia. Parents may receive a call from a health care provider that says the screening test indicates possible galactosemia. At that time, the parents should promptly stop milk products and have a blood test done for galactosemia through their doctor.

• Review Date: 4/2/2007
• Reviewed By: Reviewed By: A.D.A.M. Editorial Team: Greg Juhn, M.T.P.W., David R. Eltz, Kelli A. Stacy. Previously reviewed by Lamya Alarif, Ph.D., H.C.L.D., Immunology and Genetics Associates, McLean, VA. Review provided by VeriMed Healthcare Network (3/13/2006).

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