Galactosemia causes: Difference between revisions

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Revision as of 07:11, 24 May 2022

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

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3]; Associate Editor(s)-in-Chief:

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 ==Causes==
+{{CMG}}; {{AE}}
-Mutations in the genes GALT, GALK1 and GALE are the causes of galactosemia. The mutations that occur in these genes will eliminate or greatly reduce their activity, preventing or diminishing the metabolism of galactose and leading to the buildup of the sugar in the blood to toxic levels resulting in life threatening complications like [[hepatomegaly]] (an enlarged [[liver]]), [[renal failure]], [[cataract]]s, and [[brain damage]]. Without treatment, mortality in infants with galactosemia is about 75%.
 ==References==