Hunter Syndrome

A rare genetic disorder affecting boys, Hunter syndrome prevents the proper breakdown of sugar molecules. Buildup of these molecules causes damage in tissues and organs, affecting a child's physical and mental development.

Causes of Hunter Syndrome

  • Hunter syndrome results from a gene mutation (abnormality) passed down from a mother to her child.

  • The affected gene is responsible for regulating the production of a specific enzyme (substance that sparks chemical reactions in the body).

  • This enzyme breaks down complex sugars the body produces.

  • In people with the disease, the body does not produce any or enough of this enzyme.

  • The missing enzyme causes molecules of the sugars to build up in organs and tissues throughout the body.

  • These buildups can damage organs and tissues throughout the body.

Symptoms of Hunter Syndrome

  • Stiff joints

  • Thickening of facial features including nostrils, lips and tongue

  • Delayed appearance of teeth or wide spaces between teeth

  • Larger than normal head, wide chest and short neck

  • Hearing loss that gets worse with time

  • Delayed growth, especially starting around age 5

  • Enlarged spleen and liver

  • White growths on the skin

Diagnosis of Hunter Syndrome

Urine test

checks for unusually high levels of sugar molecules

Blood tests

can show low or absent levels of enzyme activity, which is also a sign of the disease

Genetic testing

identifies mutations (changes) in the gene to confirm diagnosis

Treatment of Hunter Syndrome

  • Treatment for Hunter syndrome depends on the symptoms.

  • A team approach, with specialists in different areas of expertise, could help manage the potential problems associated with the condition and give patients the best possible care.

  • The goal of treatment is to slow the progression of the disease and improve quality of life.

  • The treatment shown to do this best is enzyme replacement therapy.

  • Doctors replace the missing enzyme with a human-made version of the enzyme, called Elaprase.

  • Doctors usually deliver this treatment intravenously (through a needle inserted into the vein) once a week.

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