title: [Fabry-Anderson disease: current state of knowledge].
abstract: Fabry-Anderson disease is a lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase. This enzymatic defect results in the accumulation of glycosphingolipid into different lines cells. Usually the deficiency is complete, resulting in a multisystem disorder, with injury in different organs, predominantly heart, kidney and nervous system. However, in some patients the enzymatic deficit is partial and causes diverse clinical variants of the disease (renal or cardiac variety), this cause a difficult diagnostic and the absence of real epidemiology data. This review is about the epidemiology, the metabolic defect of this disease, it's molecular and genetics bases, the different forms of clinical presentation and the enzyme replacement therapy.
authors: Departamento de Nefrología y Metabolismo Mineral, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Tlalpan, México, DF. olynkavega@hotmail.com
authors: Olynka
authors: O
authors: Vega-Vega
authors: Angélica
authors: A
authors: Pérez-Gutiérrez
authors: Ricardo
authors: R
authors: Correa-Rotter
mesh_terms: D041321:Chromosomes, Human, X / Q000235:genetics; D015331:Cohort Studies; D004730:Endothelium, Vascular / Q000201:enzymology; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009206:Myocardium / Q000201:enzymology; D009928:Organ Specificity; D010641:Phenotype; D016032:Randomized Controlled Trials as Topic; D000519:alpha-Galactosidase / Q000032:analysis / Q000096:biosynthesis / Q000235:genetics / Q000627:therapeutic use; D048809:alpha-N-Acetylgalactosaminidase / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase; D048809:alpha-N-Acetylgalactosaminidase