Hunter

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 noticeable at birth, but they begin to appear during the first two or three years of life. The symptoms and severity of the disease can vary widely in children.

The most common symptoms include:

• Abnormal bone size or shape and other skeletal irregularities
• Thickened skin
• Enlarged organs, such as liver or spleen
• Hearing loss
• Heart problems
• Breathing problems
• Joint stiffness
• Mental health problems, such as developmental delays and aggressive behavior

Causes

Hunter syndrome is caused by a mutation in the IDS gene. This gene provides instructions for producing the enzyme that breaks down complex molecules. If the IDS gene is mutated, the enzyme may be missing or not work properly.

Diagnosis

Diagnosis of Hunter syndrome is based on observing the physical symptoms, a thorough medical history, and specialized laboratory tests. The doctor may also order a urine test to look for an excess of mucopolysaccharides. If excess mucopolysaccharides are found, a blood test can be done to confirm the diagnosis.

Treatment

There is no cure for Hunter syndrome. Treatment of Hunter syndrome involves managing the symptoms and improving the person's quality of life. This may include surgery to improve breathing, physical therapy to help with movement, and medication to manage heart problems.

See also

• Genetic disorder
• Enzyme
• Mucopolysaccharidosis
• IDS gene

References

Hunter Resources
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