Mucopolysaccharidosis type II Hunter syndrome- severe form

Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare, inherited lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs, resulting in a wide range of symptoms and complications. MPS II is an X-linked recessive condition, meaning it primarily affects males, while females can be carriers of the disease. The severe form of Hunter syndrome presents more pronounced symptoms and progresses more rapidly than the milder form.

Symptoms and Diagnosis

Symptoms of the severe form of MPS II typically begin in early childhood and may include dwarfism, distinctive facial features, hearing loss, cardiac disease, respiratory problems, and cognitive impairment. The severity and progression of symptoms can vary widely among individuals. Diagnosis is often based on clinical evaluation, family history, and specialized tests that measure enzyme activity or genetic testing to identify mutations in the IDS gene.

Treatment

There is no cure for MPS II, but treatment options are available to manage symptoms and improve quality of life. Enzyme replacement therapy (ERT) with idursulfase (brand name Elaprase) is the primary treatment for individuals with MPS II. ERT can help reduce the accumulation of GAGs, but it does not cross the blood-brain barrier, making it ineffective for treating neurological symptoms. In some cases, hematopoietic stem cell transplantation (HSCT) has been explored as a treatment option, particularly in younger patients, with the goal of slowing the progression of the disease.

Prognosis

The prognosis for individuals with the severe form of MPS II is generally poor, with life expectancy significantly reduced. Many individuals with the severe form do not survive past their teenage years, primarily due to complications related to cardiac and respiratory issues. Early diagnosis and intervention can help manage symptoms and improve the quality of life for those affected.

Research

Research into MPS II is ongoing, with efforts focused on better understanding the disease mechanism, improving existing treatments, and exploring new therapeutic approaches, including gene therapy. Gene therapy holds promise for treating the neurological aspects of the disease, as it has the potential to introduce a functional copy of the IDS gene directly into the patient's cells.

Mucopolysaccharidosis type II Hunter syndrome- severe form Resources
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