title: Transplantation in inborn errors of metabolism: current considerations and future perspectives.
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 haemopoietic 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 recent decades. This discussion focuses on HCT in IEM, providing an international perspective on progress, limitations, and future directions.
authors: Paediatric Blood and Marrow Transplantation Programme, University Medical Centre Utrecht, Utrecht, The Netherlands; Laboratory Translational Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands.
authors: Jaap Jan
authors: JJ
authors: Boelens
authors: Paul J
authors: PJ
authors: Orchard
authors: Robert F
authors: RF
authors: Wynn
mesh_terms: D064591:Allografts; D016026:Bone Marrow Transplantation / Q000009:adverse effects; D003131:Combined Modality Therapy; D042241:Early Diagnosis; D056947:Enzyme Replacement Therapy; D005544:Forecasting; D015316:Genetic Therapy; D006086:Graft vs Host Disease / Q000209:etiology / Q000517:prevention & control; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy / Q000628:therapy*; D015997:Neonatal Screening; D018579:Patient Selection; D011788:Quality of Life; D033581:Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods; D013997:Time Factors
chemical_list: D007166:Immunosuppressive Agents
keywords: inborn errors; metabolism; transplantation