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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Fabry's disease
Tatiana Adam1, Luana Alexandrescu, F Voinea
11st Internal Medicine Department, The Emergency County Hospital Constanţa, Romania. tatianaadam04@yahoo.com
Abstract:
Fabry's disease is a rare X-linked, recessive, glycolipid storage disorder. It is caused by the deficient activity of a lysosomal enzyme, alpha-galactosidase A. Deficiency of alpha-GAL causes an inability to catabolize the lipids with cellular accumulation of its most abundant substrate, globotriaosylceramide (GL-3), and other neutral glycosphingolipids in the vascular endothelium and numerous tissues throughout the body. This progressive glycosphingolipid accumulation leads to life-threatening clinical sequelae in renal, cardiac and cerebrovascular systems. Heterozygous Fabry's disease is less studied. We present a patient, 43 years old, with cardiac (hypertrophic cardiomyopathy), neurological (sensitive-motive polyneuropathy), digestive (chronic diarrheea), renal and cutaneous involvements.
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