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Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort

Current Issues in Molecular Biology, 2021
Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease probands ...
Naoki Morito, Michihiro Hosojima, Hitoshi Sugiyama   +2 more
exaly   +3 more sources

Adequate hemodialysis does not compromise the cardioprotective effect of agalsidase alfa on patients with Fabry disease: a case report [PDF]

Journal of Medical Case Reports
Background Fabry disease is an inherited lysosomal storage disease that can be reversed, or the progression slowed, by enzyme replacement therapy in the early stage.
Xiansen Wei, Shimin Jiang, Li Zhuo, Hong Jiang, Wenge Li   +4 more
doaj   +2 more sources

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Yasuhiro Ogawa, Takahiro Tsukimura, Tomoko Shiga   +2 more
exaly   +3 more sources

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Satoshi Ishii, Atsumi Taguchi, Mariko Mikame   +2 more
exaly   +3 more sources

Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience [PDF]

Molecular Genetics and Metabolism Reports
Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficient α-galactosidase A (α-Gal) activity, leading to progressive renal, cardiac, and cerebrovascular involvement.
Eamon P. McCarron, Rajkumar Chinnadurai, Karolina M. Stepien, John Bassett, Jonathan Meyer, Reena Sharma, Peter Woolfson, Ana Jovanovic   +7 more
doaj   +2 more sources

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy [PDF]

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +2 more sources

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Molecular Genetics and Metabolism Reports, 2014
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Kazuki Ohno, Futoshi Shibasaki, Takahiro Tsukimura   +2 more
exaly   +3 more sources

Novel GLA variant (c.752A>C; p.Glu251Ala) identified in a patient with Fabry cardiomyopathy and familial segregation [PDF]

Frontiers in Molecular Biosciences
BackgroundFabry disease (Anderson–Fabry disease,FD) is an X-linked lysosomal storage disorder caused by variants in GLA, resulting in α-galactosidase A (α-Gal A) deficiency and accumulation of globotriaosylsphingosine (lyso-Gb3), with frequent cardiac ...
Ting Zhang, Sulan Huang, Fan Huang
doaj   +2 more sources

A new multiplex analysis of glucosylsphingosine and globotriaosylsphingosine in dried blood spots by tandem mass spectrometry

Molecular Genetics and Metabolism Reports, 2023
Background: Gaucher's and Fabry's disease are two of the most common treatable lysosomal storage diseases, and have a wide spectrum of clinical symptoms. Early detection is important, because timely initiation of treatments can improve the disease status
Amber Van Baelen
exaly   +3 more sources

Fabry Disease Nephropathy: Compendium of “in vitro” and “in vivo” Renal Effects of Globotriaosylsphingosine

Kidney & Blood Pressure Research
Background: Renal damage in Fabry disease (FD) is a consequence of pathological and progressive glycosphingolipids accumulation, which occurs in different magnitudes among FD phenotypes, but is a constant renal tissue phenomenon in all ...
Sebastián Pedro Antonio Jaurretche, María Victoria del Rosal, María Luana Brajkovic, Juan Ignacio Isaac, Graciela Venera, Germán Pérez   +5 more
doaj   +2 more sources