What is Hunter Syndrome?
It is a hereditary disease, which women carry and pass on to their sons, even though they are not affected themselves. It affects boys because it is an X-linked recessive disease. Females have two X chromosomes, while males have one X and one Y. So if a boy’s X chromosome carries the faulty gene variant linked to the disease on his X chromosome, he will have the condition. Whereas if a female has one faulty and one normal version of the gene, she will be a carrier of the syndrome, but the functioning version of the gene will mean she will not show any symptoms. In Hunter syndrome, chemicals called mucopolysaccharide (MPS), found in the matrix which support cells in the body cannot be broken down properly because of the lack of a key enzyme. The chemicals then build up and can cause organ damage and, in severe cases, early death. One in 25,000 people are born with some kind of MPS storage disorder, such as Hunter syndrome. Are all cases the same? No. There is an early-onset form of the
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. Story continues ADVERTISEMENT //’); //]]> It is named after Scottish-born Dr Charles A Hunter (1873-1955), who first described it in 1917 in Canada.
Hunter syndrome is a very rare and difficult disorder that is part of a series of metabolic diseases called mucopolysachcaridosis, or MPS. It may be also called MPS II and there are two types of Hunter syndrome called MPS IIa and IIb. In this condition the body lacks an enzyme called iduronate-2-sulfatase, which helps break down certain substances called glycosaminoglycans. As glycosaminoglycans begin to stock up in the body they cause substantial bodily changes, affecting many of the body’s systems. This disease is also an inherited one, passed by mothers who carry a recessive gene for it to children, and it is thus named an X-linked recessive illness. The two types of Hunter syndrome will differ in symptoms and onset. MPS IIa is more severe and symptoms may be noticed when children are between the ages of two and four. MPS IIa is devastating, and few people who have this disease live past young adulthood. It is also difficult for parents to watch children that previously seemed fine
