Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders

Jaap J. Boelens, Vinod K. Prasad, Jakub Tolar, Robert F. Wynn, Charles Peters

Research output: Contribution to journalReview articlepeer-review

82 Scopus citations

Abstract

Inherited metabolic disorders (IMD) or inborn errors of metabolism are a diverse group of diseases arising from genetic defects in lysosomal enzymes or peroxisomal function. These diseases are characterized by devastating systemic processes affecting neurologic and cognitive function, growth and development, and cardiopulmonary status. Onset in infancy or early childhood is typically accompanied by rapid deterioration. Early death is a common outcome. Timely diagnosis and immediate referral to an IMD specialist are essential steps in management of these disorders. Treatment recommendations are based on the disorder, its phenotype including age at onset and rate of progression, severity of clinical signs and symptoms, family values and expectations, and the risks and benefits associated with available therapies such as allogeneic hematopoietic stem cell transplantation (HSCT). This review discusses indications for HSCT and outcomes of HSCT for selected IMD. An international perspective on progress, limitations, and future directions in the field is provided.

Original languageEnglish (US)
Pages (from-to)123-145
Number of pages23
JournalPediatric clinics of North America
Volume57
Issue number1
DOIs
StatePublished - Feb 1 2010

Keywords

  • Bone marrow transplantation
  • Hematopoietic stem cell transplantation
  • Inborn errors of metabolism
  • Inherited metabolic disorders
  • Pediatrics
  • Storage diseases
  • Umbilical cord blood transplantation

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