Stamceltransplantatie voor aangeboren stofwisselingsziekten

For a selected group of inborn errors of metabolism (IEM), stem cell transplantation (SCT) is able to prevent disease progression. This applies mainly to specific lysosomal storage disorders and peroxisomal disorders and only when the SCT is performed early in life and before cerebral involvement has occurred. In Hurler syndrome, X-linked adrenoleukodystrophy and Krabbe disease, promising results have been reported. The success of SCT in IEM has, however, been limited by high graft failure and transplantation-related mortality rates as well as the long interval between diagnosis and SCT due to difficulties finding a suitable stem cell donor. Due to the improved transplantation techniques, the use of unrelated cord blood as a stem cell source and the possibility of using adjuvant intravenous enzyme replacement therapy, the success rate of the procedure can be significantly improved, subsequently considerably improving the prognosis of these severely affected children. Furthermore, a worldwide registry database, for the accurate registration of the (long term) outcome of SCT in IEM, is of utmost importance.