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

McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, et al. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genet Med. 2017;19(9):967–74.

CAS  PubMed  PubMed Central  Google Scholar 

Cox GF, Clarke LA, Giugliani R, McGovern MM. Burden of illness in acid sphingomyelinase deficiency: a retrospective chart review of 100 patients. JIMD Rep. 2018;41:119–29.

PubMed  PubMed Central  Google Scholar 

Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, et al. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Mol Genet Metab. 2019;126(2):98–105.

CAS  PubMed  Google Scholar 

Schuchman EH, Desnick RJ. Types A and B Niemann-pick disease. Mol Genet Metab. 2017;120(1–2):27–33.

CAS  PubMed  Google Scholar 

McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of Type A Niemann-pick disease: possible endpoints for therapeutic trials. Neurology. 2006;66(2):228–32.

CAS  PubMed  Google Scholar 

Wasserstein MP, Schuchman EH. Acid sphingomyelinase deficiency. GeneReviews. 2021;2:558.

Google Scholar 

McGovern MM, Avetisyan R, Sanson BJ, Lidove O. Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD). Orphanet J Rare Dis. 2017;12(1):1–13.

Google Scholar 

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, et al. Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon. Hum Mutat. 2004;24(2):186–7.

CAS  PubMed  Google Scholar 

Ida H, Rennert OM, Maekawa K, Eto Y. Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B. Hum Mutat. 1996;7(1):65–7.

CAS  PubMed  Google Scholar 

Lan MY, Lin SJ, Chen YF, Peng CH, Liu YF. A novel missense mutation of the SMPD1 gene in a Taiwanese patient with type B Niemann-Pick disease. Ann Hematol. 2009;88(7):695–7.

PubMed  Google Scholar 

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. Hum Mutat. 2009;30(7):1117–22.

PubMed  PubMed Central  Google Scholar 

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, et al. Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. Orphanet J Rare Dis. 2013;28(8):15.

Google Scholar 

Kingma SDK, Bodamer OA, Wijburg FA. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015;29(2):145–57.

PubMed  Google Scholar 

Schielen PCJI, Kemper EA, Gelb MH. Newborn screening for lysosomal storage diseases: a concise review of the literature on screening methods, therapeutic possibilities and regional programs. Int J Neonatal Screen. 2017;3(2):558.

Google Scholar 

Schuchman EH. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. FEBS Lett. 2010;584(9):1895–900.

CAS  PubMed  Google Scholar 

Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther. 2009;47(Suppl 1):S48-57.

CAS  PubMed  Google Scholar 

Michel V, Bakovic M. Lipid rafts in health and disease. Biol Cell. 2007;99(3):129–40.

CAS  PubMed  Google Scholar 

Wolf C, Quinn PJ. Membrane lipid homeostasis. Subcell Biochem. 2004;37:317–57.

CAS  PubMed  Google Scholar 

Scandroglio F, Venkata JK, Loberto N, Prioni S, Schuchman EH, Chigorno V, et al. Lipid content of brain, brain membrane lipid domains, and neurons from acid sphingomyelinase deficient mice. J Neurochem. 2008;107(2):329–38.

CAS  PubMed  PubMed Central  Google Scholar 

Rodriguez-Lafrasse C, Vanier MT. Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B. Neurochem Res. 1999;24(2):199–205.

CAS  PubMed  Google Scholar 

Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, et al. Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. Mol Genet Metab. 2014;111(2):209–11.

CAS  PubMed  Google Scholar 

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, et al. LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: a novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. PLoS One. 2017;12(7):6558.

Google Scholar 

Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, et al. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. Clin Chem Lab Med. 2019;5:669.

Google Scholar 

Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, et al. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Clin Chem Lab Med. 2017;55(3):403–14.

CAS  PubMed  Google Scholar 

Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, et al. Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases. Anal Biochem. 2017;15(525):73–7.

Google Scholar 

Welford RWD, Garzotti M, Marques Lourenço C, Mengel E, Marquardt T, Reunert J, et al. Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study. PLoS ONE. 2014;9(12):e114669.

PubMed  PubMed Central  Google Scholar 

Breilyn MS, Zhang W, Yu C, Wasserstein MP. Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency. Mol Genet Metab Rep. 2021;28:100780.

CAS  PubMed  PubMed Central  Google Scholar 

Giese AK, Mascher H, Grittner U, Eichler S, Kramp G, Lukas J, et al. A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease. Orphanet J Rare Dis. 2015;17(10):78.

Google Scholar 

Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, et al. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. Clin Chim Acta [Internet]. 2018;486:387–94.

CAS  PubMed  Google Scholar 

Elliott S, Buroker N, Cournoyer JJ, Potier AM, Trometer JD, Elbin C, et al. Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. Mol Genet Metab. 2016;118(4):304–9.

CAS  PubMed  PubMed Central  Google Scholar 

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, et al. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. J Inherit Metab Dis. 2018;41(2):209–19.

CAS  PubMed  Google Scholar 

Pentchev PG, Gal AE, Booth AD, Omodeo-Sale F, Fours J, Neumeyer BA, et al. A lysosomal storage disorder in mice characterized by a dual deficiency of sphingomyelinase and glucocerebrosidase. Biochimica et Biophysica Acta Lipids Lipid Metabol. 1980;619(3):669–79.

CAS  Google Scholar 

Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 1994;93(3):1288–92.

CAS  PubMed  PubMed Central  Google Scholar 

Piraud M, Pettazzoni M, Lavoie P, Ruet S, Pagan C, Cheillan D, et al. Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders. J Inherit Metab Dis. 2018;41(3):457–77.

CAS  PubMed  Google Scholar 

Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, et al. LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: a novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. PLoS One. 2017;12(7):e0181700.

PubMed  PubMed Central  Google Scholar 

Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, van-der Ghauharali VJMM, Beers-Stet FS, et al. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. Mol Genet Metab. 2018;123(2):76–84.

CAS  PubMed  Google Scholar 

Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, et al. Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis. 2018;13(1):50.

PubMed  PubMed Central  Google Scholar 

Sheth J, Joseph JJ, Shah K, Muranjan M, Mistri M, Sheth F. Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature. BMC Med Genet. 2017;18(1):5.

PubMed  PubMed Central  Google Scholar 

Kadali S, Kolusu A, Sunkara S, Gummadi M, Undamatla J. Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: a retrospective study from India. Clin Chim Acta. 2016;1(457):8–11.

Google Scholar 

Brinkman J, Wijburg F, Hollak C, Groener J, Verhoek M, Scheij S, et al. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J Inherit Metab Dis. 2005;28(1):13–20.

CAS  PubMed  Google Scholar 

Boot R, Renkema G, Verhoek M, Strijland A, Bliek J, de Meulemeester T, et al. The human chitotriosidase gene. Nature of inherited enzyme deficiency. J Biol Chem. 1998;273(40):25680–5.

CAS  PubMed  Google Scholar 

Bussink A, Verhoek M, Vreede J, van-der Ghauharali VK, Donker-Koopman W, Sprenger R, et al. Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates. FEBS J. 2009;276(19):5678–88.

CAS  PubMed  Google Scholar 

PL 5043/2020 - Senado Federal [Internet]. [cited 2021 Oct 19]. https://www25.senado.leg.br/web/atividade/materias/-/materia/147900

留言 (0)

沒有登入
gif