Hurler syndrome was discovered and first described by German pediatrician Gertrud Hurler in 1919.
Gertrud Hurler's initial description of the syndrome, also known as mucopolysaccharidosis type I (MPS I), marked a crucial step in understanding this rare genetic disorder. Her observation of distinctive skeletal abnormalities, corneal clouding, and intellectual disability in affected children led to the recognition of a previously unidentified condition. Further research has since identified the underlying cause as a deficiency in the enzyme alpha-L-iduronidase, which leads to the buildup of glycosaminoglycans (GAGs) within cells. This buildup causes progressive damage to various organs and tissues.
Hurler syndrome is now known to be one of several types of mucopolysaccharidoses, each resulting from a deficiency in a different enzyme involved in GAG metabolism. While Gertrud Hurler identified the first recognized case, subsequent research has expanded our understanding of MPS I and its variations, as well as the broader spectrum of mucopolysaccharidosis disorders.
