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 the add up of the sugar to toxic levels and to the life threatening complications of galactosemia.