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Newborn Metabolic Screening Program

Galactosemia (GALT)

What Is It?
Galactosemia is a hereditary disease that is caused by the lack of a liver enzyme required to digest galactose. Galactose is a breakdown product of lactose, which is most commonly found in milk products. Since galactose cannot be broken down, it builds up in the cells and becomes toxic. The body then produces abnormal chemicals, which causes the symptoms seen in infants with untreated galactosemia.

Inheritance and Frequency
The gene defect for Galactosemia is an autosomal recessive genetic trait and is unknowingly passed down from generation to generation. This faulty gene only emerges when two carriers have children together and pass it to their offspring. For each pregnancy of two such carriers, there is a 25% chance that the child will be born with the disease and a 50% chance the child will be a carrier for the gene defect. Incidence is approximately 1in 50,000 births.

Signs and Symptoms
Galactosemia usually causes no symptoms at birth, but jaundice, diarrhea, and vomiting soon develop and the baby fails to gain weight. If not detected immediately, it results in liver disease, cataracts, mental retardation, and even death. Children suspected to have galactosemia, whether clinically diagnosed or have a positive newborn screening (NBS) result showing Galactosemia, should have a sepsis work up. Ingestion of galactose, whether through regular formula or breast milk, can produce sepsis in an affected child. Antibiotics are commonly prescribed for all galactosemic children who have ingested galactose to prevent sepsis. Even after a galactosemic child has been switched to a soy based formula, sepsis can still develop if the child has previously ingested galactose.

Long Term Effects
As galactosemic children get older they may encounter delays in speech and females may suffer from ovarian failure. Nevertheless, children who are diagnosed early have very good long-term outlooks and will lead normal, healthy lives.

Treatment
Treatment for galactosemia is the elimination of galactose and lactose from the diet throughout life. A person with galactosemia will never be able to properly digest foods containing galactose. There is no chemical or drug substitute for the missing enzyme at this time. An infant diagnosed with galactosemia will simply be changed to a soy-based formula that does not contain galactose. Galactosemia is often confused with lactose intolerance, but please keep in mind that galactosemia is a disease. A person with galactosemia is not someone who had galactosemia as a child and then grew out of it.