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Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.
Kubaski, Francyne; Burlina, Alberto; Pereira, Danilo; Silva, Camilo; Herbst, Zackary M; Trapp, Franciele B; Michelin-Tirelli, Kristiane; Lopes, Franciele F; Burin, Maira G; Brusius-Facchin, Ana Carolina; Netto, Alice B O; Poletto, Edina; Bernardes, Tamires M; Carvalho, Gerson S; Sorte, Ney B; Ferreira, Fernanda N; Perin, Nilza; Clivati, Marta R; de Santana, Marnie T S; Lobos, Sandra F G; Leão, Emilia K E A; Coutinho, Marcelo P; Pinos, Paola V; Santos, Maria L S F; Penatti, Debora A; Lourenço, Charles M; Polo, Giulia; Giugliani, Roberto.
Afiliación
  • Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Burlina A; PPGMB, UFRGS, Porto Alegre, Brazil.
  • Pereira D; 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.
  • Silva C; Waters Technologies Brazil, São Paulo, Brazil.
  • Herbst ZM; Innovatox, São Paulo, Brazil.
  • Trapp FB; Waters Technologies Brazil, São Paulo, Brazil.
  • Michelin-Tirelli K; Department of Chemistry, University of Washington, Seattle, USA.
  • 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.
  • Poletto E; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Bernardes TM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Carvalho GS; PPGMB, UFRGS, Porto Alegre, Brazil.
  • Sorte NB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.
  • Ferreira FN; PPGMB, UFRGS, Porto Alegre, Brazil.
  • Perin N; Hospital Infantil Sabará, São Paulo, Brazil.
  • Clivati MR; Hospital Regional de Caguatinga, Brasilia, Brazil.
  • de Santana MTS; HUPES, Salvador, Brazil.
  • Lobos SFG; Private Clinic, São Paulo, Brazil.
  • Leão EKEA; Hospital Infantil Joana Gusmão, Florianópolis, Brazil.
  • Coutinho MP; Centro Clivati de Neurologia, Curitiba, Brazil.
  • Pinos PV; Clínica de Pediatria e Adolescentes, Salvador, Brazil.
  • Santos MLSF; Hemocentro da Bahia, Salvador, Brazil.
  • Penatti DA; HUPES, Salvador, Brazil.
  • Lourenço CM; Centro de Referência e Tratamento da Criança, Campos dos Goitacazes, Brazil.
  • Polo G; Hajar Hospital, Tehran, Iran.
  • Giugliani R; Hospital Infantil Pequeno Príncipe, Curitiba, Brazil.
Orphanet J Rare Dis ; 17(1): 407, 2022 11 08.
Article en En | MEDLINE | ID: mdl-36348386
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de Niemann-Pick / Enfermedad de Niemann-Pick Tipo A Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades de Niemann-Pick / Enfermedad de Niemann-Pick Tipo A Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2022 Tipo del documento: Article País de afiliación: Brasil Pais de publicación: Reino Unido