Seminars in hematology
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The mucopolysaccharidoses (MPSs) are inherited metabolic disorders (IMDs) caused by single-gene defects leading to progressive cellular accumulation of glycosaminoglycans (GAGs) and damage to multiple organs, including the central nervous, musculoskeletal, cardiorespiratory, and other systems. Hurler syndrome (MPS IH), the most severe form, is the prototypical model. Enzyme replacement therapy (ERT), available for MPS I, II, and VI, is beneficial in some patients. ⋯ Bone marrow has been the graft source in the past. However, in the last 5 years many patients have been treated with unrelated donor (URD) umbilical cord blood transplant (UCBT), allowing rapid and increased access to transplantation with favorable outcomes. This review describes published and our institutional clinical experiences, discusses the current status of the field, and provides therapy guidelines for patients with MPS.
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Hematopoietic stem cell transplantation (HSCT) has been used for three decades as therapy for lysosomal storage diseases. Stable engraftment following transplantation has the potential to provide a source of an enzyme for the life of a patient. Recombinant enzyme is available for disorders that do not have a primary neurologic component. ⋯ Adrenoleukodystrophy is an X-linked, peroxisomal disorder, and in approximately 40% of cases a progressive, inflammatory condition develops in the CNS. Early in the course of the disease, allogeneic transplantation can arrest the disease process in cerebral adrenoleukodystrophy, while more advanced patients do poorly. In many of these cases, the utilization of cord blood grafts allows expedient transplantation, which can be critical in achieving optimal outcomes.