May also be called: Galactose-1-Phosphate Uridyltransferase Deficiency; Galactokinase
Deficiency; Galactose-6-Phosphatase Emirase Deficiency; GALT Deficiency; Galactose
Epimerase Deficiency; Classic Galactosemia; Galactosemia Type II; Galactosemia Type
Galactosemia (guh-lak-tuh-SEE-mee-uh) is an inherited
disorder in which the body can't break down a type of sugar called galactose.
More to Know
Galactose is one of the two sugars found in lactose, or milk sugar. It's also in
some fruits and vegetables. Galactosemia is caused by mutations (changes) in genes
that help make enzymes the body needs to change galactose into glucose.
The parents of a child with galactosemia are carriers of the mutation. This means
they have the gene in their bodies and can pass it on, but won't show any signs of
the condition themselves.
Babies with galactosemia don't have the enzyme that changes galactose into glucose,
a sugar the body uses. If babies drink milk or other products with lactose or galactose,
galactose can build up in the body and damage cells and organs. This can lead to blindness,
impaired mental development, growth problems, and in some cases even death.
Galactosemia usually appears within the first few days or weeks after a baby's
birth. Newborns with galactosemia often have symptoms like vomiting, poor feeding,
loss of appetite, yellowed skin and whites of the eyes (jaundice), and failure
to thrive (they don't grow and gain weight properly). They also may have enlarged
To treat galactosemia, milk (including breast milk), other dairy products, and
other sources of lactose and galactose must be removed from the baby's diet.
This may help control symptoms. Even with the proper dietary changes, though, galactosemia
often causes serious long-term problems.
Keep in Mind
If not treated, galactosemia quickly can become life-threatening. Fortunately,
newborns can be screened
for the condition. Treatment usually starts before a child becomes seriously ill and
has permanent organ damage. Children who are diagnosed early and eat a lactose-free
and galactose-free diet usually reach adulthood.
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