Galactosemia pathophysiology

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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

In unborn children with galactosemia, galactose-1-phosphate or gal-1-P is not well metabolised and accumulates in the fetus. After birth, it accumulates in various tissues after lactose is ingested. If successfully treated, individuals with galactosemia will retain a low level of red cell gal-1-P. These levels will increase if they ingest lactose again