Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Aicardi-Goutières syndrome (AGS)
C26:0-lysophosphatidylcholine
DBS
X-ALD
X-linked adrenoleukodystrophy (X-ALD)
Zellweger Spectrum Disorders
hematopoietic stem cell transplantation (HCST)
newborn screening (NBS)
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2022
2022
Historique:
received:
17
10
2022
accepted:
07
12
2022
entrez:
26
1
2023
pubmed:
27
1
2023
medline:
27
1
2023
Statut:
epublish
Résumé
X-linked adrenoleukodystrophy (X-ALD) is the most common inherited peroxisomal disorder caused by variants in the In June 2021, an Italian group in Lombardy launched a pilot study for the implementation of X-ALD in the Italian NBS program. A three-tiered approach was adopted, and it involved quantifying the values of C26:0-LPC and other metabolites in dried blood spots with FIA-MS/MS first, followed by the more specific ultra-performance liquid chromatography-tandem mass spectrometry (UHPLC-MS/MS) technique and, finally, the genetic confirmation Genetically confirmed patients are set to undergo a follow-up protocol and are periodically evaluated to promptly start a specific treatment if and when the first signs of brain damage appear, as suggested by international guidelines. A specific disease monitoring protocol has been created based on literature data and personal direct experience. The primary aim of this study was to develop a model able to improve the early diagnosis and subsequent follow-up and timely treatment of X-ALD. The study was approved by the local ethics committee. The research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest.
Identifiants
pubmed: 36698902
doi: 10.3389/fneur.2022.1072256
pmc: PMC9869129
doi:
Types de publication
Journal Article
Langues
eng
Pagination
1072256Investigateurs
Gianluca Lista
(G)
Paola Fontana
(P)
Tiziana Varisco
(T)
Olivia Casati
(O)
Alberto Fabio Podestà
(AF)
Maddalena Gibelli
(M)
Stefano Martinelli
(S)
Roberta Restelli
(R)
Laura Maria Pogliani
(LM)
Roberta Agistri
(R)
Marco Giuseppe Nedbal
(MG)
Paolo Vaglia
(P)
Chryssoula Tzialla
(C)
Luisa Magnani
(L)
Elena Sala
(E)
Laura Lorioli
(L)
Giuseppe Banderali
(G)
Diana Ghisleni
(D)
Bruno Drera
(B)
Marta Frittoli
(M)
Francesca Lizzoli
(F)
Marta Bellini
(M)
Paola Bruni
(P)
Ilaria Giulini
(I)
Valentina Benedetti
(V)
Valentina Polimeni
(V)
Nadia Salvoni
(N)
Masotina Raffaele
(M)
Cristina Bellan
(C)
Roberto Bottino
(R)
Graziano Barera
(G)
Antonella Poloniato
(A)
Marta Odoni
(M)
Ilaria Dalla Verde
(ID)
Massimo Agosti
(M)
Angela Bossi
(A)
Anna Tosi
(A)
Anna Elisabetta Bussolini
(AE)
Francesco Maria Risso
(FM)
Vania Spinoni
(V)
Nicola Altamura
(N)
Patrizia Ballista
(P)
Silvia Di Chio
(S)
Luciana Pagani
(L)
Lidia Decembrino
(L)
Michela Grignani
(M)
Grazia Morandi
(G)
Valeria Angela Fasolato
(VA)
Lorella Rossi
(L)
Emilio Palumbo
(E)
Alessandro Lepore
(A)
Maria Forestieri
(M)
Commentaires et corrections
Type : ErratumIn
Informations de copyright
Copyright © 2023 Bonaventura, Alberti, Lucchi, Cappelletti, Fazzone, Cattaneo, Bellini, Izzo, Parazzini, Bosetti, Di Profio, Fiore, Ferrario, Mameli, Sangiorgio, Masnada, Zuccotti, Veggiotti, Spaccini, Iascone, Verduci, Cereda, Tonduti and XALD-NBS Study Group.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Arch Neurol. 2005 Jul;62(7):1073-80
pubmed: 16009761
Neurology. 2018 Feb 6;90(6):289-291
pubmed: 29321238
Blood. 2011 Aug 18;118(7):1971-8
pubmed: 21586746
Front Cell Dev Biol. 2020 Jun 17;8:499
pubmed: 32626714
Neurology. 2019 Apr 9;92(15):e1698-e1708
pubmed: 30902905
Biol Blood Marrow Transplant. 2019 Mar;25(3):538-548
pubmed: 30292747
Mol Genet Metab. 2015 Apr;114(4):599-603
pubmed: 25724074
Int J Neonatal Screen. 2020 Oct 23;6(4):
pubmed: 33239602
Biochim Biophys Acta. 2005 Sep 5;1736(1):61-6
pubmed: 16055372
J Pediatr. 2005 Apr;146(4):528-32
pubmed: 15812458
JAMA Netw Open. 2020 Jan 3;3(1):e1920356
pubmed: 32003821
J Clin Endocrinol Metab. 2018 Nov 1;103(11):4324-4331
pubmed: 30289543
Biol Blood Marrow Transplant. 2019 Dec;25(12):e363-e374
pubmed: 31499213
Int J Neonatal Screen. 2021 Apr 17;7(2):
pubmed: 33920672
Neurology. 2020 Jun 16;94(24):e2499-e2507
pubmed: 32482842
Mol Genet Metab. 2007 Mar;90(3):268-76
pubmed: 17092750
Endocrinol Nutr. 2013 Jan;60(1):37-9
pubmed: 22622158
Neuropediatrics. 2000 Oct;31(5):227-39
pubmed: 11204280
N Engl J Med. 2018 Dec 06;379(23):2275-7
pubmed: 30566312
Ann Rheum Dis. 2016 Dec;75(12):e75
pubmed: 27733349
Int J Dev Neurosci. 2020 Feb;80(1):52-72
pubmed: 31909500
Int J Neonatal Screen. 2022 Jan 17;8(1):
pubmed: 35076462
J Inherit Metab Dis. 2021 May;44(3):728-739
pubmed: 33373467
Am J Med Genet A. 2019 Jul;179(7):1205-1213
pubmed: 31074578
J Inherit Metab Dis. 2014 Sep;37(5):791-9
pubmed: 24619150
Ann Neurol. 1987 Mar;21(3):240-9
pubmed: 2440378
J Inherit Metab Dis. 1995;18(5):635-7
pubmed: 8598646
Clin Chim Acta. 2020 Apr;503:157-162
pubmed: 31978407
J Clin Endocrinol Metab. 2019 Jan 1;104(1):118-126
pubmed: 30252065
N Engl J Med. 1993 Sep 9;329(11):745-52
pubmed: 8350883
J Pediatr Gastroenterol Nutr. 2017 Aug;65(2):242-264
pubmed: 28737572
Int J Neonatal Screen. 2022 Mar 23;8(2):
pubmed: 35466195
Ann Neurol. 2011 Jul;70(1):84-92
pubmed: 21786300
Int J Neonatal Screen. 2016 Dec;2(4):
pubmed: 31467997
Int J Neonatal Screen. 2020 Aug 05;6(3):62
pubmed: 33123639
Brain. 2014 Mar;137(Pt 3):693-706
pubmed: 24480483
Neurology. 2003 Aug 12;61(3):369-74
pubmed: 12913200
Neurology. 2022 Nov 22;99(21):940-951
pubmed: 36175155
Mol Genet Metab. 2017 Nov;122(3):134-139
pubmed: 28739201
Mol Genet Metab Rep. 2021 Jan 30;26:100720
pubmed: 33552912
Nat Clin Pract Neurol. 2007 Mar;3(3):140-51
pubmed: 17342190
Pediatr Transplant. 2005 Dec;9 Suppl 7:55-62
pubmed: 16305618
Ann Neurol. 2001 Apr;49(4):512-7
pubmed: 11310629
J Lipid Res. 2006 Jun;47(6):1289-97
pubmed: 16525189
Am J Clin Nutr. 1984 Aug;40(2):277-84
pubmed: 6465061
J Inherit Metab Dis. 2012 Sep;35(5):899-907
pubmed: 22189598