2024 Volume 61 Issue 3 Pages 229-233
Hematopoietic stem cell transplantation (HSCT) has been used for inherited metabolic diseases (IMDs) since the early 1980s and has been attempted for various types of these diseases during the first two decades. In recent years, indications for HSCT have included mucopolysaccharidosis (MPS-I, MPS-II, and MPS-IVA), adrenoleukodystrophy, metachromatic leukodystrophy, Krabbe disease, and I-cell disease. HSCT for IMDs is considered a high-risk treatment because of the increased incidence of engraftment failure and transplant-related complications such as graft-versus-host disease. However, it has become progressively safer owing to the selection of appropriate transplant sources by advancing human leukocyte antigen -typing technology, world-standard transplant preparation regimens, including intravenous busulfan, and improvements in supportive care for infectious diseases. In future, newborn mass screening will include some IMDs; therefore, it will be necessary to establish a transplant network. There is a need to establish collaboration between metabolic disorders specialists and transplant specialists.
