Mucopolysaccharidosis Type I

📋Overview

Mucopolysaccharidosis Type I is a rare, inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-L-iduronidase. This deficiency results in the accumulation of glycosaminoglycans in various tissues, which can lead to progressive multi-systemic clinical features.

The disorder encompasses a spectrum of severity that was historically divided into Hurler, Hurler-Scheie, and Scheie syndromes. Current clinical understanding recognizes these variations as a continuous range of disease expression rather than separate, distinct subtypes.