The specific treatment of lysosomal diseases involves strategies that include: hematopoietic stem cell transplantation, enzyme replacement therapy, organ transplantation, dialysis, use of substrate synthesis inhibitors, loss of fundamental elements of the organism such as accumulated substrate, and others.
Gene therapy is a reality in some clinical studies for some metabolic diseases, however, it is not yet available in Brazil.
HUSNY, ASE; FERNANDES-CALDAT, MC. Inborn errors of metabolism: literature review. Revista Paraense de Medicina, Belém, v. 20, no. 2, p. 41-45, 2006. Available at: <http://scielo.iec.gov.br/scielo.php?script=sci_arttext&pid=S0101-59072006000200008&lng=pt&nrm=iso>. Accessed on: May 4, 2022.
SAUDUBRAY, JM; BAUMGARTNER, MR; WALTER, J (ed.). Inborn Metabolic Diseases: Diagnosis and Treatment. 6. ed. Berlin, Heidelberg: Springer, 2016. 658 p. ISBN 978-3-662-49771-5. DOI https://doi.org/10.1007/978-3-662-49771-5. Available at: <https://link.springer.com/book/10.1007/978-3-662-49771-5>. Accessed on: May 4, 2022.
SCHWARTZ, IV; SOUSA, CFM; GIUGLIANI, R. Treatment of inborn errors of metabolism. Jornal de Pediatria, Rio de Janeiro, v. 84, no. 4, p. 8-19, 2008. DOI https://doi.org/10.1590/S0021-75572008000500003. Available at: <https://www.scielo.br/j/jped/a/Wp3sZ8B9Qhx8PDKSmLfGzVh/?lang=pt>. Accessed on: May 4, 2022.
SECRETARIAT OF SCIENCE, TECHNOLOGY AND STRATEGIC INPUTS/MINISTRY OF HEALTH (Brazil). National Commission for the Incorporation of Technologies into the SUS (CONITEC). Technical Report nº 109 05/2014. Report No. 109 Diagnostic evaluation, laboratory procedures and genetic counseling for Rare Diseases, [S. l.], 2014. Available at: <http://conitec.gov.br/images/Incorporados/DoencasRaras-EixosI-II-III-FINAL.pdf>. Accessed on: May 4, 2022