Hunter syndrome

Hunter syndrome is a very rare, inherited genetic disorder caused by a missing or malfunctioning enzyme. In Hunter syndrome, the body doesn't have enough of the enzyme iduronate 2-sulfatase. This enzyme's job is to break down certain complex molecules, and without enough of this enzyme, the molecules build up in harmful amounts.

Symptoms

Symptoms of Hunter syndrome (also called Mucopolysaccharidosis II or MPS II) are often not visible at birth, but usually start to become noticeable after the first year of life. These symptoms can vary widely in severity.

Physical Symptoms

• Distinct facial features, including a broad nose and thick lips
• A large head
• An enlarged abdomen
• Diarrhea
• White skin growths that resemble pebbles
• Joint stiffness
• Walking difficulties

Neurological Symptoms

• Developmental delay
• Aggressive behavior
• Hyperactivity
• Mental decline
• Hearing loss
• Heart problems

Causes

Hunter syndrome is caused by a mutation in the IDS gene. This gene provides instructions for producing the enzyme iduronate 2-sulfatase, which is involved in breaking down large sugar molecules called glycosaminoglycans.

Diagnosis

Diagnosis of Hunter syndrome is based on observing the physical symptoms, a detailed patient history, a clinical evaluation and a variety of specialized tests.

Treatment

There is no cure for Hunter syndrome. Treatment is focused on managing symptoms and improving quality of life. Enzyme replacement therapy (ERT) can help manage symptoms.

See Also

• Genetic disorder
• Enzyme
• Mucopolysaccharidosis
• IDS gene

References

Hunter syndrome Resources
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