title: Gastroenterological complications of Anderson-Fabry disease.
abstract: Fabry disease is a multisystemic X-linked lysosomal storage disorder, caused by the partial or complete deficiency of alpha-galactosidase A activity. The storage of glycosphingolipids in the vascular endothelium and in various tissues can lead to a broad spectrum of clinical manifestations. Renal failure, cardiovascular disease, and strokes are the main causes of morbidity and mortality. Gastrointestinal symptoms, although common, are often under-reported in the literature. This review covers the gastroenterological aspects of Fabry disease.
authors: The Children's Memorial Health Institute, Department of Pediatrics, 04-730 Al. Dzieci Polskich, Warsaw, Poland. piotrbuda@plusnet.pl.
authors: Piotr
authors: P
authors: Buda
authors: Janusz
authors: J
authors: Książyk
authors: Anna
authors: A
authors: Tylki-Szymanska
mesh_terms: D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D005260:Female; D005767:Gastrointestinal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D008297:Male; D012727:Sex Characteristics; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000097:blood / Q000627:therapeutic use
chemical_list: D006028:Glycosphingolipids; D000519:alpha-Galactosidase