Galactosemia natural history, complications and prognosis

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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

The only scientifically approved and effective treatment for classic galactosemia is eliminating galactose from the diet, through elimination of dairy products. Individuals with Duarte variant of galactosemia do not need to eliminate galactose from their diet at all and may not experience any symptoms. However, even with an early diagnosis and subsequent elimination of galactose from the diet, some individuals diagnosed with classic galactosemia experience long term complications such as speech difficulties, learning disabilities and neurological impairment. Newborns with classic galactosemia will show symptoms the first days of life if they are fed formula or breast milk which contain lactose. They will develop symptoms like convulsions, irritability, lethargy, poor appetite and baby refusing to be fed, poor weight gain, vomiting and jaundice noticed with yellow skin and yellow whites of the eyes.