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Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a rare and serious genetic disorder found primarily in males. It inhibits the body’s ability to break down and recycle mucopolysaccharides, also known as glycosaminoglycans or GAG. Hunter syndrome is one of several lysosomal storage disorders.
Patients with Hunter syndrome often have a number of physical manifestations, including distinct facial features, a large head and an enlarged abdomen. Other symptoms may include hearing loss, thickening of the heart valves, sleep apnea, or an enlarged liver and spleen. Patients may also experience limited range of motion and mobility. In some instances of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. It is important to note that each Hunter patient can have a unique set of symptoms, and the rate of symptom progression varies widely. However, Hunter syndrome is always severe, progressive, and life-limiting.1
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Other Resources:
Elaprase.com
Hunterpatients.com
Shire.com
NORD - National Organization for Rare Diseases
1 Information on disease state found at Hunterpatients.com.
Elaprase is a registered trademark of Shire Human Genetic Therapies, Inc.
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