Mucopolysaccharidosis type II Hunter syndrome- mild form

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare genetic disorder that primarily affects males. It is one of several related lysosomal storage diseases. In its mild form, the symptoms of MPS II are less severe and progress at a slower rate.

Causes

Mucopolysaccharidosis type II is caused by a deficiency in the enzyme iduronate-2-sulfatase (I2S), which is involved in the breakdown of glycosaminoglycans (GAGs), also known as mucopolysaccharides. This deficiency is due to mutations in the IDS gene, which provides instructions for producing I2S. The accumulation of GAGs in the body's cells and tissues leads to the various symptoms of MPS II.

Symptoms

The symptoms of the mild form of MPS II are generally less severe and progress more slowly than those of the severe form. They may include joint stiffness, hearing loss, heart disease, and a reduced lifespan. However, intelligence is typically not affected in the mild form of the disease.

Diagnosis

Diagnosis of MPS II is based on clinical examination, urine tests for excess GAGs, and enzyme activity tests. Genetic testing can also be used to identify mutations in the IDS gene.

Treatment

There is currently no cure for MPS II. Treatment is aimed at managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and occupational therapy. Enzyme replacement therapy (ERT) with recombinant I2S may also be used to help reduce the accumulation of GAGs in the body.

Prognosis

The prognosis for individuals with the mild form of MPS II varies. Some individuals may live into adulthood, while others may have a reduced lifespan due to complications such as heart disease.

See also

• Mucopolysaccharidosis
• Lysosomal storage disease
• Genetic disorder
• Enzyme replacement therapy

NIH genetic and rare disease info

• NIH info on Mucopolysaccharidosis type II Hunter syndrome- mild form

Mucopolysaccharidosis type II Hunter syndrome- mild form is a rare disease.

Mucopolysaccharidosis type II Hunter syndrome- mild form Resources
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