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.