5 Facts you should know about

Hunter syndrome

Hunter syndrome is a rare genetic disorder belonging to a group of diseases known as mucopolysaccharidoses (MPS), specifically MPS II. It is an X-linked recessive disorder caused by mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase

Individuals with Hunter syndrome lack this enzyme, causing a buildup of glycosaminoglycans (GAGs) in cells, leading to progressive damage in multiple organs and tissues

Symptoms typically appear in early childhood and may include coarse facial features, skeletal abnormalities, enlarged organs, joint stiffness, hernias, hearing loss, and cognitive decline. The severity of symptoms varies widely

Diagnosis involves clinical evaluation, urine and blood tests to detect elevated levels of GAGs, genetic testing to confirm the IDS gene mutation, and often consultation with specialists for various organ system assessments

Treatment focuses on managing symptoms and may include enzyme replacement therapy (ERT) to provide the missing enzyme, supportive care, physical therapy, and surgeries to address specific complications

See our full disease profile

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