Resumen

Fabry-Anderson disease is a lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase. This enzymatic defect results in the accumulation of glycosphingolipid in different cell lines. Usually the deficiency is complete, resulting in a multisystem disorder with injury to different organs, predominantly the 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), leading to a difficult diagnosis and the absence of trustworthy epidemiological data. This review focuses on the disease’s epidemiology, the inherent metabolic defect, its molecular and genetic bases, the different forms of clinical presentation and enzyme replacement therapy.

Palabras clave: Fabry-Anderson disease physiopathology lysosomal storage disease α-galactosidase glycosphingolipids.

2014-11-10   |   371 visitas   |   Evalua este artículo 0 valoraciones

Vol. 63 Núm.3. Mayo-Junio 2011 Pags. 314-321 Rev Invest Clin 2011; 63(3-ENGLISH)