International Multicenter Study Analyzing The Long Term Outcome Of Hurler Syndrome Patients After Successful Hematopoietic Stem Cell Transplantation

Abstract

Hurler syndrome (HS), the most severe phenotype in the spectrum of Mucopolysaccharidosis type I (MPS I), is caused by a severe deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). HS is clinically characterized by a progressive and ultimately fatal multi-system deterioration with involvement of the central nervous system. At present, hematopoietic stem cell transplantation (HSCT) is the only treatment able to prevent disease progression in the central nervous system and therefore considered the treatment of choice in HS.