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Neuropediatrics 2016; 47(05): 285-292
DOI: 10.1055/s-0036-1584602
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives

Jaap Jan Boelens
1   Pediatric Blood and Marrow Transplantation Program, University Medical Center Utrecht, Utrecht, The Netherlands
2   Laboratory Translational Immunology, University Medical Center Utrecht, Utrecht, The Netherlands
3   Sylvia Toth Center, University Medical Center Utrecht, Utrecht, The Netherlands
,
Peter M. van Hasselt
3   Sylvia Toth Center, University Medical Center Utrecht, Utrecht, The Netherlands
4   Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
› Author Affiliations
Further Information

Publication History

18 January 2016

19 April 2016

Publication Date:
16 June 2016 (online)

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Abstract

Inborn errors of metabolism (IEM) comprise an assorted group of inherited diseases, some of which are due to disordered lysosomal or peroxisomal function and some of which might be improved following hematopoietic cell transplantation (HCT). In these disorders the onset in infancy or early childhood is typically accompanied by rapid deterioration, resulting in early death in the more severe phenotypes. Timely diagnosis and immediate referral to an IEM specialist are essential steps in optimal management. Treatment recommendations are based on the diagnosis, its phenotype, rate of progression, prior extent of disease, family values, and expectations, and the risks and benefits associated with available therapies, including HCT. International collaborative efforts are of utmost importance in determining outcomes of therapy for these rare diseases, and have improved those outcomes significantly over the last decades. In this review, we will focus on the neurodevelopmental outcomes after HCT in IEM, providing an international perspective on progress, limitations, and future directions.

Keywords

hematopoietic cell transplantation - neurodevelopment - indications - gene therapy
 

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