Hurler syndrome
Hurler syndrome is a rare genetic disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is essential for breaking down certain complex carbohydrates, leading to their accumulation in the body. Symptoms typically appear in early childhood and can include developmental delays, distinctive facial features, and skeletal abnormalities.
Individuals with Hurler syndrome may also experience heart and respiratory issues, as well as hearing loss. Early diagnosis and treatment, such as enzyme replacement therapy or hematopoietic stem cell transplantation, can help manage symptoms and improve quality of life.