title: Gastrointestinal phenotype of fabry disease in a patient with pseudoobstruction syndrome.
abstract: Fabry disease is a rare, X-linked inborn error of glycosphingolipid metabolism caused by a deficiency of the lysosomal enzyme α-galactosidase A. Progressive deposition of GL-3 starts early in life, presumably as early as in fetal life. Chronic burning or provoked attacks of excruciating pain in hands and feet in Fabry disease are common in most children as well as GI-symptoms.We describe a case of pediatric Fabry disease with gastrointestinal dysmotility symptoms as primary and most severe complaints. Colonic pseudoobstruction and necrosis developed by the age of 15 years. We hypothesize that this patient developed a gastrointestinal phenotype of pediatric Fabry disease that has not been described before.
authors: Department of Pediatrics, The Children's Memorial Health Institute, Warsaw, Poland.
authors: Piotr
authors: P
authors: Buda
authors: Anna
authors: A
authors: Wieteska-Klimczak
authors: Janusz
authors: J
authors: Ksiazyk
authors: Piotr
authors: P
authors: Gietka
authors: Anna
authors: A
authors: Smorczewska-Kiljan
authors: Maciej
authors: M
authors: Pronicki
authors: Barbara
authors: B
authors: Czartoryska
authors: Anna
authors: A
authors: Tylki-Szymanska