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Fabry Disease 

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  1. Open Access 12-04-2024 | Fabry Disease | Online First

    Arrhythmogenesis in Fabry Disease

    Fabry Disease (FD) in an X-linked inherited lysosomal storage disorder due to pathogenic variants in the galactosidase-α ( GLA ) gene, resulting in deficiency of the enzyme α-galactosidase A (α-GAL A) [ 1 , 2 ]. This leads to widespread …

  2. Open Access 13-04-2024 | Fabry Disease | Review

    Fabry disease: a rare disorder calling for personalized medicine

    Learn about Fabry disease, a rare disease that can have renal, cardiovascular, neurological, cutaneous, and ophthalmic manifestations. Discover the ways in which it may be possible to personalize treatment.

  3. Open Access 01-12-2024 | Fabry Disease | OriginalPaper

    Pregnancy outcomes of Fabry disease in Austria (PROFABIA)-a retrospective cohort-study

    Fabry disease is a rare, X-linked lysosomal storage disorder. Pathogenic variants in GLA , coding for alpha-galactosidase A (E.C. 3.2.1.22), lead to enzyme deficiency resulting in glycosphingolipid deposition-related sequelae in almost all organs.

  4. Open Access 01-12-2024 | Fabry Disease | ReviewPaper

    A systematic literature review on the health-related quality of life and economic burden of Fabry disease

    Fabry disease (FD; OMIM 301500) is a rare, multisystemic, X-linked inherited disorder of glycosphingolipid metabolism, which occurs as a result of decreased activity of the lysosomal enzyme α-galactosidase A (α-Gal A) [ 1 – 3 ]. The reduction in …

  5. Open Access 01-12-2024 | Fabry Disease | OriginalPaper

    Fabry disease in W162C mutation: a case report of two patients and a review of literature

    Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the α-galactosidase A gene ( GLA ) on the X chromosome, determining enzymatic deficiency and subsequent pathological deposition of globotriaosylceramide (Gb3) and its …

  6. Open Access 01-12-2024 | Fabry Disease | Erratum

    Correction: A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

  7. Open Access 01-12-2024 | Fabry Disease | OriginalPaper

    Increased prevalence of peripheral vestibular disorder among patients with Fabry disease

    Fabry disease, also known as Anderson-Fabry disease, is a rare and progressive X-linked glycosphingolipidosis occurring exclusively among males, with documented prevalence rates ranging from 1:8,454 males to 1:117,000 worldwide [ 1 ]. These …

  8. 16-03-2024 | Fabry Disease | Online First

    Patient with Fabry disease undergoing cardiac surgery: a word of caution

    Fabry disease (FD) is a rare genetic disorder that affects various organs and systems in the body. The disease is caused by a deficiency in the lysosomal enzyme α-galactosidase A (AGAL), which leads to the accumulation of globotriaosylceramide …

  9. Open Access 01-12-2024 | Fabry Disease | OriginalPaper

    Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents

    Fabry disease (FD; OMIM 301,500) is a rare X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene resulting in α-galactosidase A deficiency and cellular accumulation of globotriaosylceramide and related glycosphingolipids …

  10. Open Access 01-12-2024 | Fabry Disease | OriginalPaper

    Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

    Fabry disease (OMIM 301500) is a progressive x-linked inherited disorder caused by pathogenic mutations in the GLA gene leading to deficient or absent α-Galactosidase A (α-Gal A) activity [ 1 , 2 ]. Depending on the mutation, the enzyme activity …

  11. Open Access 01-12-2024 | Fabry Disease | OriginalPaper

    Case report: enzyme replacement therapy for Fabry disease presenting with proteinuria and ventricular septal thickening

    Fabry disease (FD) is an uncommon, X-linked, lysosomal storage disease that causes defects in the glycosphingolipid metabolic pathway due to deficient or absent lysosomal α-galactosidase (α-Gal A) activity. This leads to the accumulation of …

  12. Open Access 01-12-2024 | ReviewPaper

    A review and recommendations for oral chaperone therapy in adult patients with Fabry disease

    Fabry disease (FD) is a rare, X-linked lysosomal storage disorder affecting both males and females caused by genetic abnormalities in the gene encoding the enzyme α-galactosidase A. FD-affected patients represent a highly variable clinical course …

  13. 16-01-2024 | Fabry Disease | Online First

    Outcomes and management of kidney transplant recipients with Fabry disease: a review

    Fabry Disease, the second most prevalent lysosomal storage disease, though more common in males, can affect both genders. It is characterized by complete or partial deficiency of α-galactosidase A due to the various mutations in the galactosidase …

  14. Open Access 01-12-2023 | Fabry Disease | ReviewPaper

    Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

    Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipids …

  15. 22-12-2023 | Fabry Disease | Online First

    Effects of switching from agalsidase−α to agalsidase−β on biomarkers, renal and cardiac parameters, and disease severity in fabry disease forming neutralizing antidrug antibodies: a case report

    Fabry disease is an X-linked hereditary disorder caused by deficient α-galactosidase A (GLA) activity. Patients with Fabry disease are often treated with enzyme replacement therapy (ERT). However, ERT often induces the formation of neutralizing …

  16. Open Access 22-07-2023 | Fabry Disease | OriginalPaper

    Missed diagnosis of Fabry disease: should we screen patients with multiple sclerosis?

    Multiple sclerosis (MS) is an autoimmune demyelinating disorder of the central nervous system (CNS) with a broad spectrum of clinical symptoms. Both the clinical features of the disease and laboratory investigations, such as magnetic resonance …

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