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Galactosemia (GALT)

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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 usually 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.

Studies conducted since 1979 show that 1 of every 7,500 live births will have some form of galactosemia (Georgia annual Newborn Screening report - 1997). It is also estimated that 1 of every 40 people is a carrier of this defective gene.

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. Death can occur as early as one to two weeks of age from severe escherichia (E. coli) bacteria infections. E. coli infections are common in untreated galactosemic infants. The American Liver Foundation recommends that all infants who develop jaundice be considered for galactosemia.

Children suspected to have galactosemia, whether clinically diagnosed or having 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.

The incidence of Classical Galactosemia is about one in 30,000 live births. A milder form, the Duarte variant, affects approximately one in 16,000 live births.

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 for leading 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 will not "grow out of" it.

History
Galactosemia was first "discovered" in 1908. Von Ruess, in a 1908 publication entitled, "Sugar Excretion in Infancy," reported on a breast-fed infant with failure to thrive, enlargement of the liver and spleen, and "galactosuria". This infant ceased to excrete galactose through the urine when milk products were removed from the diet. The infant, however, later died because of other complications (the baby had been given tea laced with cognac as treatment as well). An autopsy revealed cirrhosis of the liver, which was thought to be due to the infant's alcohol ingestion. Though confirmation of the diagnosis was not possible at that time, it has been generally accepted that Von Ruess was the first to report on a patient with galactosemia.

By 1917, "galactosuria" was a broadly recognized inherited disorder and was treated by removal of milk products from the diet. Although the clinicians recognized galactosemia very early in the century, the defective gene that caused it wasn't found until 1956. Another major break-through was when it was first found to be detectable through a newborn screening method in 1963. This method was developed by Drs. Guthrie and Paigen. Galactosemia was the second disorder found to be detectable through newborn screening methods developed by Robert Guthrie, who designed the test for PKU originally.

Screening
Galactosemia is normally first detected through newborn screening, or NBS. Affected children can have serious, irreversible effects or even die within days from birth. It is important that newborns be screened for metabolic disorders without delay. Galactosemia can even be detected through NBS before any ingestion of galactose containing formula or breast milk.

Detection of the disorder through newborn screening (NBS) does not depend on protein or lactose ingestion, and, therefore, it should be identified on the first specimen unless the infant has been transfused. A specimen should be taken prior to transfusion. The enzyme is prone to damage if the sample is delayed in the mail or exposed to high temperatures. The routine NBS is accurate for detection of galactosemia. Two screening tests are used to screen infants affected with galactosemia - the Beutler's test and the Hill test. In fact a third test, called the "Florida test", is also normally performed on all galactosemia positives. The Beutler's test screens for galactosemia by detecting the level of enzyme of the infant. Therefore, the ingestion of formula or breast milk does not effect the outcome of this part of the NBS, and the NBS is accurate for detecting galactosemia prior to any ingestion of galactose.

Visit the What Does Your State Screen page to learn about your state's newborn screening program.

Supplemental Screening
If you live in a state that does not perform screening on its newborns for all detectable disorders, there are laboratories that will provide this screening for you no matter your state of residence. For more information about supplemental screening, visit our supplemental screening page. Also visit our frequently asked questions page for more information on newborn screening.

Other Sites of Reference

• Web based GALT mutation database
• SimulConsult Galactosemia case study
• Galactosemia Discussions
• Miele-Herndon Galactosemia Discussion Group
• Texas Department of Health - Galactosemia
• Texas Department of Health - What is Galactosemia Brochure
• GeneReviews: Galactosemia
• Genetics Home Reference: Galactosemia
• National Organization For Rare Disorders - Galactosemia
• Galactosemia - American Liver Foundation
• Organization For Endocrine & Metabolic Diseases
• Galactosemia - Washington Dept of Health
• Dr. Holmes Morton on treating a metabolic crisis specifically for a Glutaric Aciduria

Support Groups

Parents of Galactosemic Children
885 Del Sol Street
Sparks, NV 89436
Contact Person: Evelyn Rice
Phone: (775) 626-0885
Email: Write to Parents of Galactosemic Children

MUMS - National Parent-to-Parent Network

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