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]

Pathophysiology

• Galactose is an important metabolite of the human body both for neonatal and adult health, playing a vital role in systemic and cognitive development.

Physiology

Galactose is metabolised in the body through the Leloir pathway.

• It begins with conversion of B-D-galactose to A-D-galactose
• Ultimately, it results in the production of the metabolically more useful glucose-1-phosphate
• Byproducts like UDP-galactose are easily interchangeable to UDP-glucose.

(Image)