Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines.

Abstract

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), alpha-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.

• Authors: C Peters, C G Steward, National Marrow Donor Program, International Bone Marrow Transplant Registry, Working Party on Inborn Errors, European Bone Marrow Transplant Group
• Journal: Bone marrow transplantation (Bone Marrow Transplant) Vol. 31 Issue 4 Pg. 229-39 (Feb 2003) ISSN: 0268-3369 [Print] England
• PMID: 12621457 (Publication Type: Journal Article, Review)

Topics

• Carbohydrate Metabolism, Inborn Errors (genetics, therapy)
• Guidelines as Topic
• Humans
• Lipid Metabolism, Inborn Errors (genetics, therapy)
• Metabolism, Inborn Errors (genetics, therapy)
• Mucopolysaccharidoses (genetics, therapy)
• Stem Cell Transplantation (methods, standards)
• Treatment Outcome