Hematopoietic stem cell transplantation in inborn errors of metabolism Review


Authors: Tan, E. Y.; Boelens, J. J.; Jones, S. A.; Wynn, R. F.; on behalf of the Inborn Errors Working Party of the EBMT
Review Title: Hematopoietic stem cell transplantation in inborn errors of metabolism
Abstract: Hematopoietic stem cell transplantation (HSCT) has been established as an effective therapy for selected inborn errors of metabolism. The success of HSCT in metabolic disease is best exemplified through the treatment of Hurler's syndrome, a lysosomal storage disease. Through the collaborative effort of several international centers, factors that predict successful patient and transplant outcomes have been identified. In this review, we discuss the principles that underlie the use of HSCT in metabolic diseases. We consider the clinical indications, conditioning regimens, and disease-specific follow-up for HSCT in different metabolic diseases. We highlight persisting challenges in HSCT to delay progression of certain organ systems that remain refractory to HSCT and the relatively high rates of aplastic graft failure. Finally, we evaluate the variable applicability of these principles to other inherited metabolic disorders including peroxisomal, mitochondrial, and other lysosomal storage diseases.
Keywords: busulfan; hematopoietic stem cell transplantation; children; outcomes; bone-marrow-transplantation; bone marrow transplant; umbilical-cord blood; x-linked adrenoleukodystrophy; metachromatic leukodystrophy; hurler-syndrome; lysosomal storage disease; inborn; errors of metabolism; peroxisomal disease; mitochondrial disease; enzyme-replacement therapy; hunter syndromes
Journal Title: Frontiers in Pediatrics
Volume: 7
ISSN: 2296-2360
Publisher: Frontiers Media S.A.  
Date Published: 2019-10-25
Start Page: 433
Language: English
ACCESSION: WOS:000494458800001
DOI: 10.3389/fped.2019.00433
PROVIDER: wos
PMCID: PMC6824291
PUBMED: 31709204
Notes: Review -- Source: Wos
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  1. Jaap Jan Boelens
    211 Boelens