Hurler Disease

📋Overview

The condition results from a lack of alpha-L-iduronidase, which leads to the progressive accumulation of glycosaminoglycans within cellular lysosomes. This buildup can cause widespread damage to various tissues and organ systems as the substances collect over time.

Clinical literature often identifies this severe phenotype as a form of mucopolysaccharidosis type I (MPS I). The resulting cellular dysfunction typically affects multiple physiological structures, leading to the multisystemic nature of the disorder.