Hunter Syndrome (MPS II) - overview

Overview | FAQs | Lysosomal storage disorders

Hunter syndrome is a genetic disorder that inhibits the body’s ability to process glycosaminoglycans (GAG). Otherwise known as mucopolysaccharidosis II (MPS II), it occurs mainly in males. Though rare, it is a serious, life-altering condition with overt manifestations, such as distinct facial features, a large head, and an enlarged abdomen. Hearing loss, thickening of the heart valves, sleep apnea, and enlargement of the liver or spleen are also common. Mobility may be impaired. The symptoms can be unique to the individual, and the rate of progression varies widely.

Standard treatment is with Elaprase®.