Galactosemia causes: Difference between revisions
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Mutations in the genes GALE, GALK1 AND GALT 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%. | Mutations in the genes GALE, GALK1 AND GALT 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%. | ||
Shown below is a diagram depicting galactose metabolism and the different enzymes involved in it. | |||
[[File:Galactose_metabolism.png]] | |||
==References== | ==References== | ||
Revision as of 05:44, 30 December 2013
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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 GALE, GALK1 AND GALT 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%.
Shown below is a diagram depicting galactose metabolism and the different enzymes involved in it.
