Gaucher patients with type I phenotype carry no specific mutations of the GBA2 gene
A Maria, AM Oprisoreanu, AM Oprisoreanu, S vom Dahl, C Niederau, M Donner, D Häussinger, T Sauerbruch, F Lammert, Y Yildiz · Zeitschrift für Gastroenterologie · 2009 · Heft 01
Bibliografische Angaben
Zusammenfassung
Introduction: Gaucher disease, the most common inherited lysosomal storage disorder in humans, is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). The deficiency of GBA1 results in accumulation of glucosylceramide in macrophage lysosome, which leads to liver and spleen enlargements, bone lesions, and in the most severe cases, impairment of central nervous system function. Three types of Gaucher disease have been described: Type I is marked by the absence of neurological involvement and shows generally a milder form; types II and III are both relatively rare and are charact…
