Hematopoietic Cell Transplantation in Inborn Errors of Metabolism

  • Jaap J. BoelensEmail author
  • Paul Szabolcs
  • Rob Wynn
Part of the Stem Cell Biology and Regenerative Medicine book series (STEMCELL)


Timely diagnosis and immediate referral to an IEM specialist are essential steps in management of these devastating disorders. Treatment recommendations are based on: the disorder; its phenotype including age at onset, rate of progression, severity of clinical signs and symptoms; family values and expectations; and the risks and benefits associated with available therapies such as hematopoietic stem transplantation (HCT). In this chapter we focus on HCT in IEM. HCT for an IEM is performed using donor cells from bone marrow (BM), umbilical cord blood (CB) and in rare case with a growth factor mobilized peripheral blood (PB). Donor cells are infused into the patient after myelosuppression and immunosuppression using a chemotherapy containing regimen.


Enzyme Replacement Therapy Graft Versus Host Disease Hematopoietic Cell Transplantation Acute Graft Versus Host Disease Mesenchymal Stromal Stem Cell 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  1. 1.Department of Pediatrics, Blood and Marrow Transplantation ProgramUniversity Medical Center UtrechtUtrechtThe Netherlands
  2. 2.Blood and Marrow Transplantation ProgramUniversity of Pittsburgh Medical CenterPittsburghUSA
  3. 3.Blood and Marrow Transplantation ProgramRoyal Manchester Children’s HospitalManchesterUK

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