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What is Galactosemia?

Galactosemia is a congenital lack of the liver enzyme galactokinase that is responsible for the metabolism (break down) of galactose, which is one of the sugars in milk. These infants vomit, fail to thrive, and develop liver disease, mental retardation, frequent infections and eye cataracts. A specific diagnostic test can be performed on red blood cells. A strict dietary avoidance of all milk products will prevent all the symptoms except mental retardation.

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