What is it?
Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II), is a rare genetic disorder classified as a lysosomal storage disorder (LSD). It is caused by a deficiency of the enzyme iduronate-2-sulfatase (IDS), which leads to the abnormal accumulation of complex sugars called glycosaminoglycans (GAGs) in the body’s cells. This accumulation affects various systems in the body.
What are its symptoms?
Main symptoms of Hunter syndrome: The symptoms of Hunter syndrome can vary in severity and may include skeletal abnormalities, hearing loss, heart problems, respiratory difficulties, enlarged liver and spleen, and cognitive impairment. Physical features such as coarse facial features, thickening of the lips and tongue, and a large head are also common. The condition primarily affects boys, and symptoms may appear during early childhood.
What do I need to consider?
Other important facts: Hunter syndrome is an X-linked disorder, which means it primarily affects males. It is a progressive condition that worsens over time. Diagnosis of Hunter syndrome involves a combination of clinical features, genetic testing, and enzyme activity assays. While there is no cure for Hunter syndrome, treatment options focus on managing symptoms and improving the quality of life. Enzyme replacement therapy (ERT) is available to replace the missing enzyme and slow down the progression of the disease. Supportive measures such as physical and occupational therapy, hearing aids, and surgical interventions may be recommended to address specific complications.
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