Burden of Morbidity after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism – A BMTSS Report

Inborn errors of metabolism (IEM) constitute a heterogeneous group of inherited disorders and can be broadly classified as mucopolysaccharidoses (Hurler syndrome, Hunter syndrome, etc.), leukodystrophies (X-linked adrenoleukodystrophy, metachromatic leukodystrophy, globoid leukodystrophy, etc.) or other lysosomal disorders (fucosidosis, mannosidosis etc.). IEMs, if left untreated, result in a progressive decline in organ function and premature death. Novel therapies such as enzyme replacement for Hurler syndrome1 and gene therapy for leukodystrophies2,3 may mitigate disease burden, but allogeneic blood or marrow transplantation (BMT) remains the standard of care for several IEM.
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research