scholarly journals Gastrointestinal Phenotype of Fabry Disease in a Patient with Pseudoobstruction Syndrome

2011 ◽  
pp. 25-28 ◽  
Author(s):  
Piotr Buda ◽  
Anna Wieteska-Klimczak ◽  
Janusz Ksiazyk ◽  
Piotr Gietka ◽  
Anna Smorczewska-Kiljan ◽  
...  
Keyword(s):  
Fabry Disease

Searching for an additional treatment to slowing the progression of Fabry disease

2019 ◽  
Vol 110 (2) ◽  
Author(s):  
Verdiana Ravarotto ◽  
Gianni Carraro ◽  
Francesca Simioni ◽  
Giovanni Bertoldi ◽  
Elisa Pagnin ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Additional Treatment

Renal Complications of Fabry Disease

2013 ◽  
Vol 19 (33) ◽  
pp. 6046-6050 ◽  
Author(s):  
Nikolina Basic-Jukic ◽  
Petar Kes ◽  
Marijana Coric ◽  
Vanja Basic-Kes
Keyword(s):  
Fabry Disease ◽  
Renal Complications

Treatment of Anderson-Fabry Disease

2020 ◽  
Vol 26 (40) ◽  
pp. 5089-5099 ◽  
Author(s):  
Irene Simonetta ◽  
Antonino Tuttolomondo ◽  
Mario Daidone ◽  
Salvatore Miceli ◽  
Antonio Pinto
Keyword(s):  
Fabry Disease ◽  
Treatment Strategies ◽  
Signs And Symptoms ◽  
Current Treatment ◽  
Viral Gene ◽  
Pharmacological Chaperone ◽  
Enzyme Replacement ◽  
Cell Based Therapy ◽  
Organ Manifestations ◽  
Alpha Galactosidase

: Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs and symptoms of cardiac, renal, cerebrovascular involvement). Pathogenic mutations lead to a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA). In the presence of high clinical suspicion, a careful physical examination and specific laboratory tests are required. Finally, the diagnosis of Fabry’s disease is confirmed by the demonstration of the absence of or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females. Measurement of the biomarkers Gb3 and Lyso Gb3 in biological specimens may facilitate diagnosis. The current treatment of Anderson-Fabry disease is represented by enzyme replacement therapy (ERT) and oral pharmacological chaperone. Future treatments are based on new strategic approaches such as stem cell-based therapy, pharmacological approaches chaperones, mRNA therapy, and viral gene therapy. : This review outlines the current therapeutic approaches and emerging treatment strategies for Anderson-Fabry disease.

Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy

2021 ◽  
Vol 132 (2) ◽  
pp. S103
Author(s):  
Chanan Stauffer ◽  
Manisha Balwani ◽  
Robert J. Desnick ◽  
Luca Fierro ◽  
Jaya Ganesh
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Fabry Disease ◽  
Dual Therapy ◽  
Agalsidase Beta
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