What enzyme deficiency is responsible for the symptoms of Hurler Syndrome?

Hurler Syndrome, also known as Mucopolysaccharidosis type I (MPS I), is caused by a deficiency of the enzyme alpha-L-iduronidase. This enzyme is essential for the breakdown of glycosaminoglycans (GAGs), specifically dermatan sulfate and heparan sulfate. In individuals with Hurler Syndrome, the lack of active alpha-L-iduronidase leads to the accumulation of these GAGs in various tissues, resulting in the characteristic symptoms of the disease.

The symptoms can include developmental delays, skeletal abnormalities, coarse facial features, and organ dysfunction due to the infiltration of GAGs into the tissues. This malfunction disrupts normal cellular processes and leads to progressive health issues over time.

While other enzyme deficiencies are related to different lysosomal storage disorders, they do not cause the specific symptoms seen in Hurler Syndrome. For instance, beta-glucuronidase deficiency is associated with Hunter Syndrome, galactosidase deficiency is linked to Fabry disease, and sulfatase deficiency is implicated in other distinct disorders. Understanding the role of alpha-L-iduronidase is crucial in diagnosing and treating Hurler Syndrome, emphasizing its significance in this context.