Galactosemia differential diagnosis
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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 a congenital in some case fatal disease with long term complications such as hepatomegaly, brain damage, retinal damage, neurological problems among others. It is sometimes confused with lactose intolerance, which is a disorder whereby the lactose intolerant individual has a hard time digesting lactose due to the lack of the enzyme lactase.
Differential Diagnosis
Newborns suspected of suffering from galactosemia are tested for the three enzymes responsible for the metabolism of galactose, galactose-1-phosphate uridyl transferase, galactokinase,UDP galactose epimerase either by examining a blood sample or a urine sample.