Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

Autor: Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Burlina A; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neontal Screening, Department of Women and Children's Health, DIDAS Servizi di Diagnostica Integrata, University Hospital Padova, Padua, Italy. alberto.burlina@unipd.it., Pereira D; Waters Technologies Brazil, São Paulo, Brazil.; Innovatox, São Paulo, Brazil., Silva C; Waters Technologies Brazil, São Paulo, Brazil., Herbst ZM; Department of Chemistry, University of Washington, Seattle, USA., Trapp FB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Michelin-Tirelli K; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Lopes FF; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Burin MG; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Brusius-Facchin AC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Netto ABO; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Poletto E; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil., Bernardes TM; Hospital Infantil Sabará, São Paulo, Brazil., Carvalho GS; Hospital Regional de Caguatinga, Brasilia, Brazil., Sorte NB; HUPES, Salvador, Brazil., Ferreira FN; Private Clinic, São Paulo, Brazil., Perin N; Hospital Infantil Joana Gusmão, Florianópolis, Brazil., Clivati MR; Centro Clivati de Neurologia, Curitiba, Brazil., de Santana MTS; Clínica de Pediatria e Adolescentes, Salvador, Brazil., Lobos SFG; Hemocentro da Bahia, Salvador, Brazil., Leão EKEA; HUPES, Salvador, Brazil., Coutinho MP; Centro de Referência e Tratamento da Criança, Campos dos Goitacazes, Brazil., Pinos PV; Hajar Hospital, Tehran, Iran., Santos MLSF; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Penatti DA; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil., Lourenço CM; Centro Universitário Estácio de Ribeirão Preto, Ribeirão Preto, Brazil., Polo G; Division of Inherited Metabolic Diseases, Regional Center for Expanded Neontal Screening, Department of Women and Children's Health, DIDAS Servizi di Diagnostica Integrata, University Hospital Padova, Padua, Italy., Giugliani R; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; PPGMB, UFRGS, Porto Alegre, Brazil.; Dasa, São Paulo, Brazil.; Casa dos Raros, Porto Alegre, Brazil.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Nov 08; Vol. 17 (1), pp. 407. Date of Electronic Publication: 2022 Nov 08.
DOI: 10.1186/s13023-022-02560-x
Abstrakt: Background: Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a biomarker for ASMD in tissues, plasma, and dried blood spots (DBS) and lysosphingomyelin-509 (LysoSM509) is the carboxylated analogue of LysoSM. High levels of Lysosphingomyelin 509 (LysoSM509) have also been shown in ASMD patients. In this study, we report the utility of the quantification of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS).
Results: DBS samples from 14 ASMD patients were compared with 15 controls, and 44 general newborns. All patients had their diagnosis confirmed by the quantification of ASM and the measurement of the activity of chitotriosidase. All patients had significantly higher levels of lysoSM and lysoSM509 compared to controls and general newborns.
Conclusions: The quantification of lysosphingolipids in DBS is a valuable tool for the diagnosis of ASMD patients and lysoSM can be useful in the differential diagnosis with NPC. This method is also valuable in the ASMD newborn screening process.
(© 2022. The Author(s).)
Databáze: MEDLINE
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