Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes
TLDR
LysoGb3 serves as an useful biomarker to improve the diagnosis of FD heterozygotes and for therapeutic evaluation and monitoring.About:
This article is published in Molecular Genetics and Metabolism.The article was published on 2017-01-01 and is currently open access. It has received 88 citations till now. The article focuses on the topics: Fabry disease & Globotriaosylceramide.read more
Citations
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An expert consensus document on the management of cardiovascular manifestations of Fabry disease
Aleš Linhart,Dominique P. Germain,Iacopo Olivotto,Mohammed M Akhtar,Aris Anastasakis,Derralynn Hughes,Mehdi Namdar,Maurizio Pieroni,Albert Hagège,Albert Hagège,Franco Cecchi,Juan R. Gimeno,Giuseppe Limongelli,Perry M. Elliott +13 more
TL;DR: The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications.
Journal ArticleDOI
Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease.
Albina Nowak,Thomas P. Mechtler,Thorsten Hornemann,Joanna Gawinecka,Eva Theswet,Max J. Hilz,David C. Kasper +6 more
TL;DR: Serum LysoGb3 relates to disease severity, enzyme replacement response, and to the genotype severity in males, and appears to be one marker of metabolic phenotyping of FD.
Journal ArticleDOI
Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.
Dominique P. Germain,Alain Fouilhoux,Stéphane Decramer,M. Tardieu,Pascal Pillet,Marc Fila,Serge Rivera,Georges Deschênes,Didier Lacombe +8 more
TL;DR: Early diagnosis and management of FD represents a promising strategy to reduce organ damage, morbidity and premature mortality in adulthood.
Journal ArticleDOI
Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy.
Frank Derosa,Lianne Smith,Yinghua Shen,Yan Huang,Jing Pan,Hongsheng Xie,Barak Yahalom,Michael W. Heartlein +7 more
TL;DR: The sustained delivery of therapeutic human α-galactosidase protein in vivo via nanoparticle-formulated mRNA in mouse and non-human primate is described, with a demonstration of efficacy through clinically relevant biomarker reduction in a mouse Fabry disease model.
Journal ArticleDOI
Effects of Enzyme Replacement Therapy and Antidrug Antibodies in Patients with Fabry Disease.
Malte Lenders,Eva Brand +1 more
TL;DR: Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by mutations of the α-galactosidase A gene.
References
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Journal ArticleDOI
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
Marco Spada,Severo Pagliardini,Makiko Yasuda,Turgut Tukel,Geetha Thiagarajan,Hitoshi Sakuraba,Alberto Ponzone,Robert J. Desnick +7 more
TL;DR: The results suggest that the later-onset phenotype of Fabry disease is underdiagnosed among males with cardiac, cerebrovascular, and/or renal disease and raises ethical issues related to when screening should be performed--in the neonatal period or at early maturity, perhaps in conjunction with screening for other treatable adult-ONSet disorders.
Journal ArticleDOI
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Robert J. Desnick,Roscoe O. Brady,John A. Barranger,Allan J. Collins,Dominique P. Germain,Martin E. Goldman,Gregory A. Grabowski,Seymour Packman,William R. Wilcox +8 more
TL;DR: Recently, enzyme replacement with human -Gal A has been shown to safely reverse the pathogenesis of the major clinical manifestations, to decrease pain, and to stabilize renal function in patients with Fabry disease, and the European Agency for the Evaluation of Medicinal Products has approved the treatment and the U.S. Food and Drug Administration is currently reviewing it.
Journal ArticleDOI
Elevated globotriaosylsphingosine is a hallmark of Fabry disease
Johannes M. F. G. Aerts,Johanna E. M. Groener,Sijmen Kuiper,Wilma E. Donker-Koopman,Anneke Strijland,Roelof Ottenhoff,Cindy P. A. A. van Roomen,Mina Mirzaian,Frits A. Wijburg,Gabor E. Linthorst,Anouk C. Vedder,Saskia M. Rombach,Josanne Cox-Brinkman,Pentti Somerharju,Rolf G. Boot,Carla E. M. Hollak,Roscoe O. Brady,Ben J. H. M. Poorthuis +17 more
TL;DR: It is shown that globotriaosylsphingosine is an inhibitor of α-galactosidase A activity and the increased intima-media thickness in Fabry patients therefore may be related to the presence of this metabolite.
Journal ArticleDOI
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Shoichiro Nakao,Chihaya Kodama,Chihaya Kodama,Toshihiro Takenaka,Toshihiro Takenaka,Akihiro Tanaka,Akihiro Tanaka,Yuichiro Yasumoto,Yuichiro Yasumoto,Aichi Yoshida,Aichi Yoshida,Tamotsu Kanzaki,Tamotsu Kanzaki,Annette L.D. Enriquez,Annette L.D. Enriquez,Christine M. Eng,Christine M. Eng,Hiromitsu Tanaka,Hiromitsu Tanaka,Chuwa Tei,Chuwa Tei,Robert J. Desnick,Robert J. Desnick +22 more
TL;DR: The clinical spectrum of Fabry disease includes a "renal variant" phenotype in patients without classic symptoms who develop ESRD, and affected males undergoing hemodialysis or renal transplantation can be readily diagnosed by plasma alpha-Gal A assays.
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