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Health Information For Parents
Galactosemia is a metabolic disorder that some babies are born with. It’s caused by problem with the enzymes that break down the sugar galactose. Babies with galactosemia (geh-lak-teh-SEE-mee-uh) have high levels of galactose in their blood.
Lactose is the main type of sugar in milk, milk-based formulas, and breast milk. Lactose is made up of glucose and galactose. That’s why babies with galactosemia can’t have milk and dairy products.
There are three types of galactosemia, depending on which enzyme doesn’t work. The most common and severe type is called classic galactosemia.
Signs of classic galactosemia usually start in a baby’s first week of life. They include:
If the condition isn’t treated, a baby may have trouble growing and gaining weight, and slowed development.
All newborn babies in the United States have their blood tested for signs of galactosemia as part of newborn screening.
Doctors also do other tests if they suspect galactosemia, such as:
Untreated galactosemia can lead to liver damage, kidney failure, and intellectual disabilities. So doctors will put babies with galactosemia on a soy formula (which doesn’t contain lactose) as soon as possible. Babies must drink soy-based formula instead of breast milk or a cow’s milk-based formula. Milk-based “lactose-free” formulas are not recommended.
Kids with classic galactosemia must continue to keep milk and other dairy products out of their diets. Most will need to take calcium supplements.
Children with milder types of galactosemia might be able to have some dairy. That’s because the enzymes that break down galactose are partially working.
Galactosemia happens when there’s a change (mutation) in the genes that make an enzyme that breaks down galactose. To have galactosemia, a child must inherit two galactosemia genes, one from each parent.
In galactosemia, galactose and its byproducts build up in the blood. This can damage cells and parts of the body.
Early diagnosis and treatment can help reverse cataracts, aid growth, and improve liver and kidney problems. Even with good dietary treatment, children with galactosemia may have:
Doctors will closely watch kids who have galactosemia. They’ll check their growth and development, do eye exams to look for cataracts, and measure galactose levels in the blood.
Because galactosemia is a genetic condition, consider speaking to a genetic counselor about testing other family members and to learn how galactosemia runs in families.
You also can find more information and support online at:
By the time you hold your new baby for the first time, you’ve probably chosen your little one’s doctor. Learn about your newborn’s medical care.
Newborn screening tests look for health conditions that aren’t apparent at birth. Find out which tests are done.
Read the basics about genetics, including how certain illnesses, or increased risks for certain illnesses, pass from generation to generation.
Advances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.
Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more.
A baby with congenital cataracts has clouding in one or both eyes. Doctors do surgery to treat them.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
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