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.
What Are the Signs & Symptoms of Galactosemia?
Signs of classic galactosemia usually start in a baby's first week of life. They
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
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.
What Causes Galactosemia?
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.
What Else Should I Know?
Early diagnosis and treatment can help reverse cataracts, aid growth, and improve
liver and kidney problems. Even with good dietary treatment, children with galactosemia