The heart in Anderson-Fabry disease and other lysosomal storage disorders
- 1 April 2007
- Vol. 93 (4) , 528-535
- https://doi.org/10.1136/hrt.2005.063818
Abstract
Anderson-Fabry disease (AFD, synonyms Fabry disease, α-galactosidase A deficiency, angiokeratoma corporis diffusum) is an X-linked LSD caused by mutations in the gene encoding the lysosomal enzyme α-galactosidase A. The resultant deficiency in α-galactosidase A activity leads to intra-lysosomal accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3), in various organ systems. The disease is characterised by progressive clinical manifestations and premature death from renal failure, stroke and cardiac disease.1Keywords
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