Galactosemia: Prevention
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Since galactosemia is a recessive genetic disease, the disease is usually detected on a newborn screening test, since most people are unaware that they are carriers of a gene mutation causing the disease. For couples with a previous child with galactosemia, prenatal diagnosis is available to determine whether a pregnancy is similarly affected. Families in which a child has been diagnosed with galactosemia can have DNA testing which can enable other more distant relatives to determine their carrier status. Prospective parents can then use that information to conduct family planning or to prepare for a child with special circumstances. Children born with galactosemia should be put on a special diet right away, to reduce the symptoms and complications of the disease.
— Amy Vance, MS, CGC
