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Anderson-Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Anderson-Fabry disease (AFD) is a rare inherited X-linked disease, caused by mutations of the gene encoding the α-galactosidase A enzyme, that leads to a deficiency or absence of its activity with consequent accumulation of globotriaosylceramide (Gb3 ...
Idalina Beirão MD, PhD, Ana Cabrita MD, Márcia Torres MD, Fernando Silva MD, Patricio Aguiar MD, Ana Marta Gomes MD   +5 more
doaj   +2 more sources

Pathologic substrate of gastropathy in Anderson-Fabry disease [PDF]

Orphanet Journal of Rare Diseases, 2020
In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate.
Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini   +9 more
doaj   +2 more sources

An Unusual Case of Anderson-Fabry Disease: Case Report [PDF]

JMIR Dermatology
Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease;
Alpana Mohta, Achala Mohta, Pramila Kumari   +2 more
doaj   +2 more sources

Transcatheter Edge-to-Edge Mitral Valve Repair in a Patient With Anderson-Fabry Disease [PDF]

JACC: Case Reports
Severe degenerative mitral regurgitation (DMR) is one cardiac manifestation of the multiorgan metabolic enzyme disorder Anderson-Fabry Disease (AFD). Although DMR is normally managed surgically, many patients with AFD are unsuitable for this.
Mohamed Elwashahy, MD, Jason Sharp, MBBS, Dennis Wang, MBBS, Tuan Nguyen-Dang, MD, Jorge Moragues, MD, Edward J.F. Danson, BMBCh, MA(Oxon), DPhil(Lond)   +5 more
doaj   +2 more sources

A Non-Invasive Technique to Unveil Renal Implications in Anderson–Fabry Disease [PDF]

Biomedicines
Background: Anderson–Fabry disease (AFD) is a rare genetic disorder characterized by a deficiency of α-galactosidase A activity and the accumulation of glycosphingolipids in tissues, which leads to multiorgan damage.
Matteo Gravina, Dario Troise, Barbara Infante, Luciano Tartaglia, Bruno Minopoli, Costanza Allegra, Grazia Casavecchia, Marcella Gambacorta, Carmen Montanile, Silvia Mercuri, Luca Macarini, Giovanni Stallone   +11 more
doaj   +2 more sources

The unlikely combination: Anderson–Fabry disease and congenital dyserythropoietic anemia type II in a pediatric patient [PDF]

Clinical Case Reports
Key Clinical Message Anderson‐Fabry disease, a rare X‐linked lysosomal disorder, and congenital dyserythropoietic anemia (CDA) Type II, an autosomal recessive condition, both have distinct inheritance patterns.
Yasmine Elsherif, Ismail A. Ibrahim, Omar Elsherif, Hana J. Abukhadijah   +3 more
doaj   +2 more sources

Anderson–Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement [PDF]

Diagnostics
Anderson–Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (α-GAL A).
Annamaria Iorio, Fabiana Lucà, Andrea Pozzi, Carmelo Massimiliano Rao, Cristina Chimenti, Stefania Angela Di Fusco, Roberta Rossini, Giorgio Caretta, Stefano Cornara, Simona Giubilato, Irene Di Matteo, Concetta Di Nora, Anna Pilleri, Sandro Gelsomino, Roberto Ceravolo, Carmine Riccio, Massimo Grimaldi, Furio Colivicchi, Fabrizio Oliva, Michele Massimo Gulizia, the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)   +20 more
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A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women. [PDF]

J Inherit Metab Dis
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
Lenzini L, Pintus G, Gugelmo G, Burlina AP, Fadini GP, Burlina AB, Vitturi N.   +6 more
europepmc   +2 more sources

Cardiac Imaging in Anderson-Fabry Disease: Past, Present and Future. [PDF]

J Clin Med, 2021
Esposito R, Santoro C, Mandoli GE, Cuomo V, Sorrentino R, La Mura L, Pastore MC, Bandera F, D'Ascenzi F, Malagoli A, Benfari G, D'Andrea A, Cameli M.   +12 more
europepmc   +2 more sources

Pathogenesis and Molecular Mechanisms of Anderson-Fabry Disease and Possible New Molecular Addressed Therapeutic Strategies. [PDF]

Int J Mol Sci, 2021
Tuttolomondo A, Simonetta I, Riolo R, Todaro F, Di Chiara T, Miceli S, Pinto A.   +6 more
europepmc   +2 more sources