Hunter Syndrome

Understanding Hunter Syndrome 

Hunter Syndrome is a rare genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase (I2S). This enzyme is crucial for breaking down glycosaminoglycans (GAGs), which are complex sugar molecules. Without adequate I2S, GAGs accumulate within the cells, leading to progressive damage across multiple organs and systems.

Common Signs and Symptoms of Hunter Syndrome:

• Coarse Facial Features: Noticeable changes in facial appearance, including a broad nose and thickened lips.
• Developmental Delays: Slower progress in achieving developmental milestones, which may affect cognitive and motor skills.
• Joint Stiffness and Limited Mobility: Reduced flexibility and joint discomfort due to GAG buildup.
• Organ Enlargement: Increased size of organs such as the liver and spleen (organomegaly).
• Cardiac Abnormalities: Potential heart complications related to GAG accumulation in cardiac tissues.
• Frequent Respiratory Infections: Increased susceptibility to lung infections and breathing difficulties.
• Hearing Loss: Progressive hearing impairment due to structural changes in the ear.

This information is provided as a resource and is not intended to diagnose a condition or prescribe treatment. Please discuss any symptoms you may exhibit with your physician.