2018/06/16 by Mohammed Akhtar, Perry Elliott · 51 citations
Medicine · Biochemistry, Genetics and Molecular Biology · Chemistry · #Lysosomal Storage Disorders Research #Cellular transport and secretion #Trypanosoma species research and implications #Membrane biology #Heart failure #Disease #Cardiology #Medicine #Fabry's disease #Internal medicine #Fabry disease #Chemistry #Biochemistry
paper · pdf · doi:10.1007/s12551-018-0432-5
published in Biophysical Reviews 10(4), 1107-1119 (Springer International Publishing)
openalex publication_date 2018/06/16 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene that result in deficiency of the enzyme alpha-galactosidase A. The worldwide incidence of Fabry's disease is reported to be in the range of 1 in 40,000-117,000, although this value may be a significant underestimate given under recognition of symptoms and delayed or missed diagnosis. Deficiency in alpha-galactosidase A causes an accumulation of neutral glycosphingolipids such as globotriaosylceramide (Gb3) in lysosomes within various tissues including the vascular endothelium, kidneys, heart, eyes, skin and nervous system. Gb3 accumulation induces pathology via the release of pro-inflammatory cytokines, growth-promoting factors and by oxidative stress, resulting in myocardial extracellular matrix remodelling, left ventricular hypertrophy (LVH), vascular dysfunction and interstitial fibrosis. Cardiac involvement manifesting as ventricular hypertrophy, systolic and diastolic dysfunction, valvular abnormalities and conduction tissue disease is common in AFD and is associated with considerable cardiovascular morbidity and mortality from heart failure, sudden cardiac death and stroke-related death.