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.
The condition is classified as a type of mucopolysaccharidosis (MPS I), which affects various organs and tissues. Early diagnosis and treatment, such as enzyme replacement therapy or hematopoietic stem cell transplantation, can help manage symptoms and improve quality of life for affected individuals.