Since galactosemia is a rare inherited disorder its symptoms and treatment are widely unfamiliar to the public.
It occurs in about 1 in 65,000 births in the United States.
What Is Galactose?
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Galactose is broken down in the body by the enzyme galactose-1-phosphate uridylyltransferase (GALT).
All 50 states in the U.S. test newborns for galactosemia.
If the infant has galactosemia, gal-1-p will be high and GALT will be very low.
Galactosemia may also be diagnosed prenatally using chorionic villus biopsy or amniocentesis tests.
Types
There are actually two types of galactosemia, depending on a child’s level of GALT.
Children can have classic galactosemia, with a complete or near-complete deficiency of GALT.
They may also have partial or variant galactosemia, with a partial GALT deficiency.
These formulas, however, do have small amounts of galactose.
This specialist can also double-check that your child is getting enough calcium and other important minerals andvitamins.
Controversial Dietary Restrictions
The dietary restrictions of children with variant galactosemia are more controversial.
One protocol involves restricting milk and milk-containing products, including breast milk, for the first year of life.
After that, some galactose would be allowed in the diet once the child is a year old.
Another option is to allow an unrestricted diet and watch for an elevation of gal-1-p levels.
Parents of a child with galactosemia will usually be offered genetic counseling if they plan to have more children.
Untreated newborns with galactosemia are at increased risk forE.
colisepticemia, a life-threatening blood infection.
