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Galactosemia is a rare (1:60,000 births) autosomal recessive inherited disease caused by an inherited lack of an enzyme responsible for processing milk sugar in the body.
Milk sugar - lactose - consists of a glucose molecule joined to a galactose molecule. It is first split into the two molecules, and then the galactose molecule is normally converted to glucose and utilized.
Galactosemia is caused by an inborn lack of an enzyme that is vital to this conversion process of galactose to glucose. As soon as the baby begins to ingest large amounts of lactose in its milk, galactose builds up in the bloodstream. This rapidly results in liver damage with jaundice, clotting abnormalities and bleeding disorders, and hypoglycemia, as well as kidney damage and cataracts of the eyes.
Many state laboratories (if not all) screen all newborns for galactosemia at birth when the PKU test is performed. Treatment of galactosemia is straightforward once identified - the elimination of milk sugar (lactose) from the diet. Babies are fed either soy-based formula or one of the newer lactose-free formulas.