ABSTRACT
Objective: We present outcome data on hematopoietic stem cell transplantation (HSCT) in children with inborn errors of metabolism (IEM). Methods: We retrospectively analyzed data on children up to 18 years of age, diagnosed with IEM, who underwent HSCT between January, 2002 and December, 2020. Results: 24 children, (mucopolysaccharidosis – 13, Gaucher disease – 4, X-linked adrenoleukodystrophy – 4, metachromatic leukodystrophy – 2, Krabbe disease – 1) were included. Donors were matched family donors in 24%, matched unrelated donors in 34%, and haploidentical fathers in 42% of the transplants, with engraftment in 91% of children. Overall survival was 72% (55-100%) with a median followup of 76.5 (10-120 ) months, and progression-free survival of 68% (MPS-76%, X-ALD - 60%, Gaucher disease – 50%, and 100% in MLD and Krabbe disease). Conclusion: HSCT is an available curative option, and early age at HSCT prevents end-organ damage.