Hunter syndrome is a hereditary disease. There is a breakdown of a mucopolysaccharide where a chemical that is widely distributed in the body outside of cells gets defected.
Deficiency of I2S or technically speaking, lack of the enzyme iduronate sulfatase is the main reason for this metabolic abnormality that leads to Hunter syndrome. Without this enzyme, mucopolysaccharidosis collected in various body tissues, cause damage.
Children in the age group of 2 to 4 years are affected in a more severe way. A large skull, coarse facial features, mental retardation that is profound, spasticity, aggressive behavior and joint stiffness are some sever symptoms that leads to ultimate death before the age of 20. A late-onset is a milder type that causes symptoms, which are less severe, and appears later. Boys are more affected than the girls as hunter syndrome is inherited as an X-linked recessive disease. The defective gene is on the X chromosome. In boys it is a single copy of the X chromosome, whereas girls have 2 copies of them.Hunter Syndrome Treatment:
Earlier, there was no treatment for Hunter syndrome. However, now a treatment has been found and it is offering hope to many who have the disease. It is an intravenous treatment was approved by The U.S. Food and Drug Administration in 2006. The medicine is called idursulfase and goes by the brand name of Elaprase. The drug is injected into the patient's vein. Bone marrow transplant was tried upon for the early onset of the disease but the results were not uniform and that is why it is not a preferred mode of treatment.
Elaprase is the first-ever treatment for Hunter syndrome, which causes bulging features, growth problems, swollen organs, and ultimately affect the lungs. Although it is very expensive, there is no other alternative treatment.
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