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What is Hunter Syndrome?

Oct 17 2008

by Kevin Hughes, Flintshire Chronicle

 

Hunter Syndrome is a hereditary disease where a breakdown of a mucopolysaccharide (a chemical widely distributed in the body) is prevented because the body can’t produce the necessary enzyme.

This chemical builds up and causes severe mental and physical problems, a characteristic facial appearance, abnormal function of multiple organs and, in severe cases, early death.

It affects boys but is inherited through the mother’s side so although it doesn’t affect girls, they can carry the defective gene.

Affected children may develop an early-onset type (severe form) shortly after age two while a late-onset type (mild form) causes later and less severe symptoms.

There are estimated to be about 2,000 cases worldwide with some 50 in the UK.

It is named after Scottish-born Dr Charles A Hunter (1873-1955), who first described it in 1917 in Canada.

 

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