Hunter syndrome overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Hunter syndrome is a lysosomal storage disease caused by a deficient (or absent) enzyme, iduronate-2-sulfatase (I2S).
Historical Perspective
The syndrome is named after physician Charles A. Hunter (1873-1955), who first described it in 1917. Born in Scotland, Hunter emigrated to Canada and had a medical practice in Winnipeg, Manitoba.
Pathophysiology
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.