Galactosemia FAQ

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WHAT IS GALACTOSEMIA?
(ga-lac-to-se-me-a)

Galactosemia (ga-lac-to-se-me-a) is a rare hereditary condition caused by the body's inability to breakdown galactose (a sugar found in milk and milk products). Breast milk and most infant formulas contain a sugar called lactose. When lactose is ingested the body breaks it down (digestion) into sugars called glucose and galactose. Before the body can use galactose it must be broken down further with the help of an enzyme. This enzyme (galactose-1-phosphate uridyl transferase) is a chemical that changes galactose into a form the body can use for energy. Ninety five percent of people with galactosemia are missing this enzyme and without it galactose builds up in the body. The high levels of galactose poison the body causing serious damage like a swollen and inflamed liver, kidney failure, stunted physical and mental growth, and cataracts in the eyes. Placing the child on a special diet within the first few days of life can prevent this damage.

HOW DO YOU GET GALACTOSEMIA?

Inherited characteristics such as eye color, hair color and galactosemia are determined by special parts of a cell called genes. Galactosemia is inherited when both parents pass a galactosemia gene to their child. The father and mother are carriers of the disorder; carriers of galactosemia will not get sick. But when two carriers have a child together there is a 1 in 4 chance (25%) that the child will have galactosemia, a 2 in 4 chance (50%) that the child will be a carrier of the disease, and a 1 in 4 chance (25%) that the child will not be a carrier nor have the disease. These are the chances with each birth.

The incidence of galactosemia is about 1:65,000 births.

HOW IS GALACTOSEMIA DETECTED?

The screening test is done on tiny samples of blood taken from the infant's heel about two days after birth and about one to two weeks later. The Texas Department of State Health Services Laboratory in Austin tests the sample. Texas law mandates two screening tests. Confirmatory testing at special labs must be done before a diagnosis of galactosemia is made.

During pregnancy a chorionic villus biopsy or an amniocentesis test may detect if the infant has galactosemia.

WHAT PROBLEMS CAN GALACTOSEMIA CAUSE?

Studies show that, over the years, children and young adults treated for galactosemia may still have problems with speech, language, hearing, fine-motor coordination, hemorrhage of the gel- like substance of the eye, tremors, stunted growth, and certain learning disabilities. Galactosemia is different for each child and will not cause the same problems with all children. Even when all instructions are followed, some children do not do as well as others. Studies tell us that children who were not given the strict diet have an increased risk of having one or more of the problems listed above.

For most girls with galactosemia, a problem called ovarian failure can happen. Ovarian failure means that the ovaries either do not develop before she is born or they will not work as she grows up. Again, because it is different for each girl, the best way to deal with this problem is to talk with her doctor to find out the latest information.

WHAT IS THE TREATMENT FOR GALACTOSEMIA?

The treatment for galactosemia is to restrict galactose and lactose from the diet for life. Since galactose is a part of lactose, all milk and all foods that have milk in them must not be eaten. This is not just cow's milk, but any animal's milk including goat's milk and human breast milk. This includes dairy products like butter, cheese, and yogurt. Other foods that have small amounts of milk products in other forms such as whey, casein, and curds must also be eliminated.

THINGS TO REMEMBER

Children with galactosemia should be followed by pediatric metabolic specialists and nutritionists. These health professionals provide the child with appropriate medical care and educate the family concerning special diet requirements.

Families are taught to read labels carefully when shopping for food for the child with galactosemia. Many prepared foods have hidden ingredients containing galactose.

Families learn to question physicians and pharmacists about prescribed medicines for their child since many medicines contain fillers that include galactose.

RESOURCES

Many families with children with galactosemia belong to groups and help each other by being pen pals, sharing recipes, and keeping up on the latest information about galactosemia.

For further information about this condition, contact the Texas Department of State Health Services, Newborn Screening Program, 1100 West 49th Street, Austin, Texas 78756. Our toll free telephone number is 1-800-252-8023 and our web site address is www.dshs.state.tx.us/newborn/


The Galactosemia Brochure (49.4KB) is also available in both English and Spanish in pdf format.

Last updated December 14, 2010