Diagnosis

Galactosemia is classified as an orphan disease due to its rarity. As a consequence, diagnosis of galactosemia requires a comprehensive review of family and medical history, specific biochemical and genetic testing, as well as a physical evaluation. Screening programs are mandatory by law in all 50 states.

During the newborn screening evaluation, a small sample of blood is taken from the baby's heel. This sample is then put on a special piece of paper that is sent to a newborn screening program, where a positive or negative result is determined. For positive individuals, further confirmation usually requires a fresh blood and urine sample that is sent to a metabolic laboratory. Untreated infants with galactosemia may die in the first few weeks of life, so diet therapy will begin even before a diagnosis is confirmed.

Genetic testing may be further performed on a placenta or amniotic fluid sample after birth to calculate the likeliness of that disorder being present. These tests can determine the specific type of genetic abnormality in an infant who has a confirmed GALT enzyme deficiency.

Treatment Guidelines

  • Dietary Guidelines

    Recommended diets for classic galactosemia are somewhat controversial and outdated due to a lack of substantial research and because clinics do not provide uniform direction to all patients. However, there are some diet resources that families can follow.

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  • Therapy

    Though the only treatment for galactosemia is avoiding foods with lactose and galactose, different types of therapy can also help address a child's unique academic, behavioral, and social needs.

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  • Clinical Resources

    The International Galactosemia Network has published clinical guidelines for the diagnosis, treatment, and follow-up of classic galactosemia.

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