Hurler Syndrome (MPS1H) is a rare genetic disorder that falls under the category of mucopolysaccharidosis (MPS) type I. It is an inherited condition caused by a deficiency of the enzyme alpha-L-iduronidase, which is responsible for breaking down certain complex sugars in the body. This deficiency leads to the accumulation of these sugars in various tissues and organs, causing progressive damage.
Individuals with Hurler Syndrome typically experience a range of symptoms that can vary in severity. These may include skeletal abnormalities, heart and lung problems, impaired vision and hearing, enlarged liver and spleen, joint stiffness, and developmental delays. The condition is usually diagnosed in early childhood.
Treatment for Hurler Syndrome focuses on managing symptoms and improving quality of life. This may involve enzyme replacement therapy, which can help reduce the buildup of sugars in the body. Other interventions may include surgeries, physical therapy, and supportive care.
Early diagnosis and intervention are crucial in managing Hurler Syndrome. Genetic counseling is recommended for families with a history of the condition to understand the risks and explore available options.