Galactosemia causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]

Overview

Galactosemia is an inherited disease. For an individual to be galactosemic, he or she must have inherited the tendency from both parents.

Causes

Mutations in the genes GALE, GALK1 AND GALT are the causes of galactosemia. The mutations that occur in these genes will eliminate or greatly reduce their activity, preventing or diminishing the metabolism of galactose and leading to the buildup of the sugar in the blood to toxic levels resulting in life threatening complications like hepatomegaly (an enlarged liver), renal failure, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%.