Galactosemia causes: Difference between revisions
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==Causes== | ==Causes== | ||
Mutations in the genes GALT, GALK1 | 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== | ==References== | ||
Revision as of 19:42, 2 January 2014
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Galactosemia Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Galactosemia causes On the Web |
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American Roentgen Ray Society Images of Galactosemia causes |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]
Overview
Galactosemia is an inherited disease. For an individual to be galactosemic, he or she must have inherited the tendency from both parents.
Causes
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, cataracts, and brain damage. Without treatment, mortality in infants with galactosemia is about 75%.