For the past two decades, hematopoietic cell transplantation (HCT) has been used as effective therapy for selected inherited metabolic diseases (IMD) including Hurler (MPS IH) and Maroteaux–Lamy (MPS VI) syndromes, childhood-onset cerebral X-linked adrenoleukodystrophy (X-ALD), globoid-cell leukodystrophy (GLD), metachromatic leukodystrophy (MLD), α-mannosidosis, osteopetrosis, and others. Careful pre-HCT evaluation is critical and coordinated, multidisciplinary follow-up is essential in this field of transplantation. The primary goals of HCT for these disorders have been to promote long-term survival with donor-derived engraftment and to optimize the quality of life. Guidelines for HCT and monitoring are provided; a brief overview of long-term results is also presented.
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The authors acknowledge the pioneering work of Professors John Hobbs of the Westminster Children's Hospital and William Krivit of the University of Minnesota and the assistance of Drs Paul Orchard and Satkiran Grewal in the preparation of this mini review. The authors also recognize the Working Party on Inborn Errors of the European Bone Marrow Transplant Group, National Marrow Donor Program, International Bone Marrow Transplant Registry, International Storage Disease Collaborative Study Group, and the Correction of Genetic Diseases by Transplantation (COGENT) Society for their roles in promoting international dialogue, collaboration, and cooperation.
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Peters, C., Steward, C. & on behalf of the NMDP, IBMTR, and the Working Party on Inborn Errors of the EBMT. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 31, 229–239 (2003). https://doi.org/10.1038/sj.bmt.1703839
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