Dried Blood Spot Analysis: An Easy And Reliable Tool To Monitor The Biochemical Effect Of Hematopoietic Stem Cell Transplantation In Hurler Syndrome Patients In A Multi-Center International Setting

Abstract

Hurler syndrome (HS), the most severe phenotype in the spectrum of MPS I, is caused by a severe deficiency of the lysosomal enzyme alpha-L-iduronidase (IDUA). 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 patients. Since IDUA enzyme levels after HSCT have been suggested to influence the prognosis of HS patients, monitoring these levels after HSCT remains highly important.