Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Fabry disease
gene analysis
genetic variants of uncertain significance
lyso-Gb3
screening
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
06
09
2017
accepted:
25
01
2018
pubmed:
16
3
2018
medline:
13
3
2019
entrez:
16
3
2018
Statut:
ppublish
Résumé
Plasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females. Between 1 July 2014 and 31 December 2015, we screened 2,359 patients (1,324 males) referred from 168 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively. Of 8 males with elevated lyso-Gb3 levels (≥2.0 ng ml Plasma lyso-Gb3 is a potential primary screening biomarker for classic and late-onset Fabry disease probands.
Identifiants
pubmed: 29543226
pii: S1098-3600(21)00074-5
doi: 10.1038/gim.2018.31
pmc: PMC6363642
doi:
Substances chimiques
Biomarkers
0
Glycolipids
0
Sphingolipids
0
globotriaosyl lysosphingolipid
126550-86-5
Galactosidases
EC 3.2.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
44-52Commentaires et corrections
Type : ErratumIn
Type : ErratumIn
Type : ErratumIn
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