Mild Galactosemia General Overview

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Mild Galactosemia General Overview Q. What is mild galactosemia? A. Mild galactosemia affects the way the body processes the sugar galactose, a component of milk and dairy products. Children with mild galactosemia may have some difficulty processing galactose. As a result, galactose and other by-products can build up in the bloodstream. Q. Is there only one form of galactosemia? A. No, there are several forms. Mild galactosemia is a term used to describe the non-severe forms that usually do not require treatment. Q. How does the body normally process galactose? A. The body normally converts galactose into glucose, which is used for energy. This conversion is made possible by several enzymes. One of these, named galactose-1-phosphate uridyltransferase (GALT), is most often associated with mild galactosemia. Q. What happens to galactose in a child with mild galactosemia? A. In a child with mild galactosemia, the body has some difficulty converting galactose to glucose. This can result in some build-up of galactose and other by-products. Q. What are the effects of having mild galactosemia if it is not treated? A. Most infants who have mild galactosemia have no effects, even without treatment. Depending on the level of enzyme activity and milk intake, some infants may show signs of poor feeding and digestion. Q. What is the treatment for mild galactosemia? A. Mild galactosemia usually does not require treatment. However, some infants may benefit from reduced milk intake. If a child with mild galactosemia has difficulty tolerating breast milk or regular formula, soy based formula can be substituted. Q. Why would a child have galactosemia? A. Galactosemia is an inherited disorder. It results when a baby receives a GALT gene that does not work well from each parent. For more information about this, contact your health care provider or a genetic counselor. Q. How common is mild galactosemia? A. It is expected that about one in every 2,500 babies in Washington State will be born with mild galactosemia. For more information about galactosemia, please see the Disorders section of our website: www.doh.wa.gov/nbs Washington State Department of Health • Newborn Screening Program 1610 NE 150th Street, K17-9 • Shoreline, WA 98155-0729 • www.doh.wa.gov/nbs Phone: (206) 418-5410 • FAX: (206) 418-5415 • E-mail: [email protected] Revised: 09/04.

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