Hunter's syndrome
Hunter's syndrome, also known as Mucopolysaccharidosis II (MPS II), is a rare genetic disorder that primarily affects males. It is one of several related lysosomal storage diseases, which are characterized by an excess of specific types of complex carbohydrates, known as glycosaminoglycans (GAGs), in the body's cells.
Causes[edit | edit source]
Hunter's syndrome is caused by a deficiency in the enzyme iduronate-2-sulfatase (I2S), which is involved in the breakdown of GAGs. This deficiency is due to mutations in the IDS gene, which provides instructions for producing I2S. The disorder is inherited in an X-linked recessive manner, meaning that it affects males almost exclusively.
Symptoms[edit | edit source]
The symptoms of Hunter's syndrome can vary widely in severity and onset. They typically begin to appear between ages 2 and 4, and may include growth delay, hearing loss, joint stiffness, and heart disease. In severe cases, individuals may also experience intellectual disability and a decline in physical abilities.
Diagnosis[edit | edit source]
Diagnosis of Hunter's syndrome is typically based on a clinical examination and confirmed through laboratory testing. This may include measuring the level of I2S in the blood or cells, or genetic testing to identify mutations in the IDS gene.
Treatment[edit | edit source]
There is currently no cure for Hunter's syndrome, but treatment can help manage symptoms and improve quality of life. This may include enzyme replacement therapy (ERT), which involves infusing a synthetic version of I2S into the bloodstream, and symptomatic treatment to manage individual symptoms.
Prognosis[edit | edit source]
The prognosis for individuals with Hunter's syndrome depends on the severity of symptoms. Those with a severe form of the disorder typically have a shortened lifespan, while those with a milder form may live into adulthood.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Hunter's syndrome is a rare disease.
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