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

Francyne KubaskiAlberto B BurlinaDanilo PereiraCamilo SilvaZackary M HerbstFranciele B TrappKristiane Michelin-TirelliFranciele F LopesMaira G BurinAna Carolina Brusius-FacchinAlice B O NettoEdina PolettoTamires M BernardesGerson S CarvalhoNey B SorteFernanda N FerreiraNilza PerinMarta R ClivatiMarnie T S de SantanaSandra F G LobosEmilia K E A LeãoMarcelo P CoutinhoPaola V PinosMaria L S F SantosDebora A PenattiCharles M LourençoGiulia PoloRoberto Giugliani

Published in: Orphanet journal of rare diseases (2022)

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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
deep brain stimulation
patient reported outcomes
replacement therapy