Galactosemia primary prevention

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

Overview

Preventive strategies of galactosemia are primarily aimed at early detection through screening and prompt intervention.

Primary Prevention

Galactosemia is an inherited autosomal recessive disorder of galactose metabolism. A single allele inherited from any one parent is not sufficient to cause the condition. Offspring born to parents who are both carriers run a 25% risk of contracting the disease. Due to the strong genetic basis of the disease, primary prevention is not adopted for galactosemia.