Mehta, Atul Ramaswami, Uma Muenzer, Joseph Giugliani, Roberto Ullrich, Kurt Collin-Histed, Tanya Panahloo, Zoya Wellhoefer, Hartmann Frader, Joel
Published in
Orphanet Journal of Rare Diseases
BackgroundLysosomal storage disorders (LSDs) are rare genetic disorders, with heterogeneous clinical manifestations and severity. Treatment options, such as enzyme replacement therapy (ERT), substrate replacement therapy, and pharmacological chaperone therapy, are available for several LSDs, including Gaucher disease (GD), Fabry disease (FD), and H...
Alamankany, Abeer
Published in
International Journal of Health Sciences
A 16-month-old Saudi boy has microcephaly and three rare genetic diseases [Riga Fede disease (RFD), Niemann-Pick C disease, and Fabry disease. In the published literature, there is no reported case with these four associations, especially RFD affection of the dorsal surface of the tongue. It is also a clear demonstration of how the proper diagnosis...
Dutra-Clarke, Marina Tapia, Daisy Curtin, Emily Rünger, Dennis Lee, Grace K. Lakatos, Anita Alandy-Dy, Zyza Freedkin, Linda Hall, Kathy Ercelen, Nesrin
...
Published in
Molecular Genetics and Metabolism Reports
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A due to mutations in the GLA gene. This leads to an accumulation of globotriaosylceramide (GL-3) in many tissues, which results in progressive damage to the kidneys, heart, and nervous system. We present the molecular and clinical char...
Laney, Dawn A Germain, Dominique P Oliveira, João Paulo Burlina, Alessandro P Cabrera, Gustavo Horacio Hong, Geu-Ru Hopkin, Robert J Niu, Dau-Ming Thomas, Mark Trimarchi, Hernán
...
Published in
Clinical Kidney Journal
The rapid spread of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 has raised questions about Fabry disease (FD) as an independent risk factor for severe COVID-19 symptoms. Available real-world data on 22 patients from an international group of healthcare providers reveals that most patients with FD ex...
Cennamo, Gilda Montorio, Daniela Santoro, Ciro Cocozza, Sirio Spinelli, Letizia Di Risi, Teodolinda Riccio, Eleonora Russo, Camilla Pontillo, Giuseppe Esposito, Roberta
...
Published in
Journal of Clinical Medicine
In this study, we evaluated the possible relationship between the changes in retinal vessel density (VD) by optical coherence tomography angiography (OCTA) and the vascular alterations involving renal, cardiovascular and central nervous systems in patients affected by Fabry disease (FD). In 50 FD patients, the retinal superficial capillary plexus (...
Al-Obaide, Mohammed A. Ibrahim Al-Obaidi, Ibtisam I. Vasylyeva, Tetyana L.
Published in
Experimental and Therapeutic Medicine
Fabry disease (FD) is a rare hereditary disorder characterized by a wide range of symptoms caused by a variety of mutations in the galactosidase α ( GLA ) gene. The heterogeneous nuclear ribonucleoprotein ( HNRNPH2 ) gene is divergently paired with GLA on chromosome X and is thought to be implicated in FD. However, insufficient information is avail...
Krämer, Julia Glaser, Felix Hasselblatt, Martin Brand, Eva Pogoda, Christian Lenders, Malte Wiendl, Heinz Meuth, Sven G. Duning, Thomas
Published in
Frontiers in Immunology
Background While cerebral lesions are common in Fabry disease (FD), spinal lesions have not been described, and their presence was suggested to be indicative of multiple sclerosis. Here, we present a FD patient with histopathological confirmed spinal ischemic stroke. Case presentation A patient with genetically and biochemically diagnosed FD and ch...
Fuller, Maria Perry, Rebecca Saiedi, Madiha Fletcher, Janice M. Selvanayagam, Joseph B.
Published in
Molecular Genetics and Metabolism Reports
Fabry disease (FD) results from a deficiency in the exoglycohydrolase, α-galactosidase A (AGA), an enzyme required for the sequential degradation of glycosphingolipids, which consequently accumulate in the lysosomes of affected cells. An X-linked inherited metabolic disorder, FD has a high incidence of a later onset phenotype that is under-diagnose...
Li, Senmao Siggel, Robert Guo, Yongwei Loreck, Niklas Rokohl, Alexander C Kurschat, Christine Heindl, Ludwig M
Published in
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
To assess corneal densitometry in patients with Fabry disease (FD) and to compare corneal densitometry differences in FD patients to different corneal manifestations. Ten participants (20 eyes) with FD and 10 age-matched healthy volunteers (20 eyes) were recruited. All participants were assessed by standardized ophthalmic examinations and the corne...
İnan, Rahşan Meşe, Meral Bicik, Zerrin
Published in
Acta neurologica Belgica
Fabry Disease (FD) is an X-linked lysosomal storage disease that emerges as a result of the mutations in the galactosidase A gene encoding alpha-galactosidase. The peripheral nervous system (PNS) involvement manifests itself as acroparesthetic complaints due to the small-fiber involvement. Our goal was to assess the PNS involvement of 14 patients w...
