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Early diagnosis of acid sphingomyelinase deficiency (ASMD) through biomarkers analysis

2025-03-27Documento de conferência Acesso aberto
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datacite.subject.fosCiências Médicas
dc.contributor.authorNeiva, Raquel
dc.contributor.authorda Silva Gaspar, Paulo Jorge Miranda
dc.contributor.authorSousa e Silva, Lisbeth Elena
dc.contributor.authorGonçalves, I.
dc.contributor.authorFerreira, S.
dc.contributor.authorDiogo, Luisa
dc.contributor.authorVilarinho, Laura
dc.date.accessioned2026-02-11T10:29:19Z
dc.date.available2026-02-11T10:29:19Z
dc.date.issued2025-03-27
dc.description.abstractIntroduction: Acid sphingomyelinase deficiency (ASMD), historically known as Niemann–Pick disease (NPD) types A, A/B, and B, is a rare, progressive, potentially fatal lysosomal storage disease caused by pathogenic variants in SMPD1 gene. It presents a wide spectrum of symptoms, age of onset, and degree and type of organ effected. The disease manifestations frequently involve hepatosplenomegaly with progressive organ dysfunction, interstitial lung disease, and bleeding. In this work, we will present a patient whose lysosomal biomarkers study allowed the diagnosis of ASMD. Methods: This patient had hepatosplenomegaly, elevated transaminases in which the primary clinical suspicion was an acid lipase deficiency. By the analysis of our multiplex biomarker panel by LC-MS/MS analysis, we were able to do a differential diagnosis. Results/Case report: The lysosphingomyelin (lysoSM) and lysosphingomyelin-509 (lysoSm-509) were approximately 100 a 150x than normal, suggestive of Niemann–Pick disease. The diagnosis of ASMD was confirmed by reduced acid sphingomyelinase enzyme activity measured in peripheral blood leukocytes and the presence of a pathogenic variant in both alleles in the SMPD1 gene. Conclusion: ASMD can be underestimate and the diagnostic odissey arise from an overlap in symptomology with other diseases, including primary hepatic disease, Gaucher disease, Niemann–Pick disease, and lysosomal acid lipase deficiency. The multiplex biomarker panel, with different lysolipids, allows simultaneously diagnosis of different LSDs, in a timely manner, leading to an early intervention, before the appearance of more deleterious symtpoms.eng
dc.identifier.urihttp://hdl.handle.net/10400.18/10893
dc.language.isoeng
dc.peerreviewedyes
dc.relation.hasversionhttps://www.spdm.org.pt/media/6798/v41l_resumo_spdm2025_c.pdf
dc.rights.uriN/A
dc.subjectAcid Sphingomyelinase Deficiency
dc.subjectASMD
dc.subjectLysosomal Storage Disease
dc.subjectBiomarkers
dc.subjectDoenças Genéticas
dc.titleEarly diagnosis of acid sphingomyelinase deficiency (ASMD) through biomarkers analysiseng
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferenceDate2025-03
oaire.citation.conferencePlaceLisboa, Portugal
oaire.citation.title21st International Symposium da Sociedade Portuguesa de Doenças Metabólicas (SPDM), 26, 29 March 2025
oaire.versionhttp://purl.org/coar/version/c_be7fb7dd8ff6fe43
person.familyNameda Silva Gaspar
person.familyNameSousa e Silva
person.familyNameDiogo
person.familyNameVilarinho
person.givenNamePaulo Jorge Miranda
person.givenNameLisbeth Elena
person.givenNameLuisa
person.givenNameLaura
person.identifier1370352
person.identifierS-8443-2018
person.identifier.ciencia-id7213-8E3E-DC0D
person.identifier.ciencia-id211F-BC45-C4BE
person.identifier.ciencia-idED17-CB2D-8337
person.identifier.ciencia-id141E-B0DE-7255
person.identifier.orcid0000-0002-4255-0946
person.identifier.orcid0000-0001-7125-8488
person.identifier.orcid0000-0003-3821-6643
person.identifier.orcid0000-0001-6186-779X
person.identifier.ridK-4425-2013
person.identifier.scopus-author-id57201454370
person.identifier.scopus-author-id57195459385
person.identifier.scopus-author-id6602440261
relation.isAuthorOfPublication00161b65-b2af-4d9d-8a3d-06e184813012
relation.isAuthorOfPublicationc0fa5523-c487-45d0-9a22-b3b78c415ad8
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relation.isAuthorOfPublication5efb6e4a-0869-4ee9-a463-4aad3cbd6d4a
relation.isAuthorOfPublication.latestForDiscovery00161b65-b2af-4d9d-8a3d-06e184813012

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