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Fabry Disease

  • Alessandro P. Burlina
  • Juan Politei
Chapter

Abstract

Fabry disease (FD, OMIM 301500) is a progressive inborn error of metabolism with important roles being played by cellular dysfunction and microvascular pathology induced by lysosomal glycosphingolipid deposition. Absent or deficient activity of lysosomal exoglycohydrolase alpha galactosidase A (a-Gal A) results in progressive accumulation of globotriaosylceramide (Gb3 or GL3; also known as ceramidetrihexoside or CTH) and related glycosphingolipids (galabiosylceramide) within lysosomes which are ubiquitous subcellular organelles, in a variety of cell types, including capillary endothelial and vascular smooth muscle cells (SMCs), renal (podocytes, tubular cells, glomerular endothelial, mesangial and interstitial cells), cardiac (cardiomyocytes and fibroblasts) and nerve cells (neurons, Schwann cells, etc.). The primary disease process starts in infancy, or even as early as in the fetal stage of development. However, in contrast to many other lysosomal storage diseases, most patients remain clinically asymptomatic or mildly symptomatic during the first years of life. First symptoms typically arise in childhood or adolescence and include, among others, neuropathic pain, angiokeratoma and cornea verticillata. Serious complications developing in adulthood include progressive renal insufficiency, cardiac complications (arrhythmia, hypertrophic cardiomyopathy) and/or cerebrovascular complications (e.g. early stroke).

Keywords

Enzyme replacement therapy Fabry disease Globotriaosylceramide Globotriaosylsphingosine Lysosomal disease Painful neuropathy Stroke 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Alessandro P. Burlina
    • 1
  • Juan Politei
    • 2
  1. 1.Neurological Unit, St Bassiano HospitalBassano del GrappaItaly
  2. 2.Laboratorio de Neuroquímica Dr. N. A. Chamoles, Fundación para el Estudio de las Enfermedades Neurometabólicas (FESEN)Buenos AiresArgentina

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