Hunter syndrome

Hunter syndrome

Hunter syndrome (pronounced: /ˈhʌntər ˈsɪndroʊm/), also known as Mucopolysaccharidosis II (MPS II), is a rare genetic disorder that primarily affects males. It is named after Charles A. Hunter, a Canadian physician who first described the syndrome in 1917.

Etymology

The term "Hunter syndrome" is derived from the name of Dr. Charles A. Hunter, who first described the condition. The term "Mucopolysaccharidosis II" refers to the type of mucopolysaccharides that accumulate in the body due to the disorder.

Definition

Hunter syndrome is a type of lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (I2S). This enzyme is necessary for the breakdown of certain complex molecules called glycosaminoglycans (GAGs). When I2S is deficient or absent, GAGs accumulate in the body's cells, leading to the various symptoms of Hunter syndrome.

Symptoms

Symptoms of Hunter syndrome can vary widely in severity and may include physical deformity, developmental delay, hearing loss, and cardiac disease. Severe cases may also involve neurological impairment.

Diagnosis

Diagnosis of Hunter syndrome is typically made through a combination of clinical examination, genetic testing, and laboratory analysis of urine and blood samples.

Treatment

While there is no cure for Hunter syndrome, treatments are available to manage symptoms and improve quality of life. These may include enzyme replacement therapy (ERT), physical therapy, and various surgical interventions.

Related Terms

• Mucopolysaccharidosis
• Lysosomal storage disease
• Iduronate-2-sulfatase
• Glycosaminoglycans
• Enzyme replacement therapy

External links

• Medical encyclopedia article on Hunter syndrome
• Wikipedia's article - Hunter syndrome

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