Talk

Hunter Syndrome is one of several hereditary metabolic conditions known collectively as lysosomal storage disorders. These are genetically distinct diseases that result from a deficiency of a particular enzyme.

• Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, is caused by an inherited deficiency in the enzyme iduronate-2-sulfatase (or I2S). Lack of this enzyme affects the body’s ability to break down and recycle cellular waste.
• Hunter syndrome affects approximately 1 in every 155,000 people.
• It primarily affects boys, because it is as an X chromosome-linked recessive disease, Boys have only 1 copy of the X chromosome, while girls have 2 copies. Women can carry one defective Hunter syndrome gene and pass it on without being affected themselves.
• Symptoms are usually not prominent at birth, but as individuals affected with Hunter syndrome grow older, physical manifestations become more apparent.
• Because Hunter syndrome is rare and its symptoms are common in children — frequent ear infections, chronic runny nose, hernias — it’s often misdiagnosed. People often receive diagnosis after the onset of more serious symptoms, such as cardiac and respiratory problems.
• Getting an early diagnosis is important: treatment can head-off the progression of the Hunter syndrome. Current treatment is an enzyme replacement therapy (ELAPRASE).
• Hunter syndrome resources: The National MPS Society, National Organization for Rare Disorders (NORD), Hunter Syndrome Patient Community

This entry was posted on Monday, August 6th, 2007 at 12:11 pm and is filed under Rare Genetic Conditions. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.