Information for Healthcare Professionals
Hunter syndrome (mucopolysaccharidosis II, MPS II) is a serious progressive genetic disorder that affects boys almost exclusively. It is caused by a deficiency or absence of the lysosomal enzyme iduronate-2-sulfatase (I2S). This enzyme is required for the degradation of specific glycosaminoglycans (GAGs); thus its absence results in a harmful accumulation of these substances in cells throughout the body.
By recognizing key clinical features you can help identify and refer patients with symptom clusters who may be at risk for this chronic, progressive metabolic disease.
Understanding Hunter Syndrome
This short video is about Hunter syndrome, or mucopolysaccharidosis II (MPS II), a serious genetic disorder that primarily affects males. It interferes with the body’s ability to break down and recycle specific mucopolysaccharides, also known as glycosaminoglycans or GAGs. Hunter syndrome is one of several related lysosomal storage diseases.
Information for Specialists
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