Hunter syndrome pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S).This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. | In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S).This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. | ||
==References== | ==References== | ||
Revision as of 04:48, 26 February 2013
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Hunter syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Hunter syndrome pathophysiology On the Web |
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American Roentgen Ray Society Images of Hunter syndrome pathophysiology |
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Risk calculators and risk factors for Hunter syndrome pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hunter syndrome is a serious genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAG. Hunter syndrome is one of several related lysosomal storage diseases.
Pathophysiology
In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S).This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible.