Inborn errors of metabolism and osteopetrosis

Authors

  • Juliana Folloni Fernandes Universidade de São Paulo – Instituto de Tratamento do Câncer Infantil – São Paulo (SP), Brazil|Hospital Israelita Albert Einstein – São Paulo (SP), Brazil|Hospital Nove de Julho – São Paulo (SP), Brazil. https://orcid.org/0000-0002-5764-1621
  • Adriana Melo Rodrigues Universidade Federal do Paraná– Hospital de Clínicas – Curitiba (PR), Brazil|Hospital Pequeno Príncipe – Curitiba (PR), Brazil.
  • Liane Esteves Daudt Universidade Federal do Rio Grande do Sul – Hospital de Clínicas – Porto Alegre (RS), Brazil. https://orcid.org/0000-0001-9495-6932
  • Paulo Klinger Hospital Santa Marcelina – Associação para Criança e Adolescente com Câncer – São Paulo (SP), Brazil. https://orcid.org/0000-0001-6739-062X
  • Carmem Bonfim Hospital Pequeno Príncipe – Curitiba (PR), Brazil|Duke University – Durham (NC), United States of America. https://orcid.org/0000-0003-0343-2610

DOI:

https://doi.org/10.46765/2675-374X.2025v6n1e297

Abstract

Allogeneic hematopoietic cell transplantation (HCT) remains the standard and potentially curative therapy for certain inborn errors of metabolism (IEM) and for osteopetrosis. This paper updates the Brazilian consensus guidelines for HCT indications in pediatric patients with IEM, specifically focusing on mucopolysaccharidosis, X-linked adrenoleukodystrophy, Krabbe disease, metachromatic leukodystrophy, and osteopetrosis. We emphasize the importance of early diagnosis, timely referral, and multidisciplinary follow-up to optimize patient outcomes. Additionally, we discuss the evolving landscape of conditioning regimens and donor selection criteria, underscoring the critical need for genetic testing to guide therapy. Future directions in research, including gene therapy and novel therapeutic strategies, are also highlighted.

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Published

12/01/2025

How to Cite

Fernandes, J. F., Rodrigues, A. M., Daudt, L. E., Klinger, P., & Bonfim, C. (2025). Inborn errors of metabolism and osteopetrosis. JOURNAL OF BONE MARROW TRANSPLANTATION AND CELLULAR THERAPY, 6(1). https://doi.org/10.46765/2675-374X.2025v6n1e297

Issue

Vol. 6 No. 1 (2025): Journal of Bone Marrow Transplantation and Cellular Therapy

Section

Pediatric Consensus Updates

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Copyright (c) 2025 Juliana Folloni Fernandes, Adriana Melo Rodrigues, Liane Esteves Daudt, Paulo Klinger, Carmem Bonfim

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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