title: Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form--no positive effects after 2-years of miglustat therapy.
abstract: Gaucher disease occurs mainly as a result of a deficiency of the lysosomal enzyme beta-glucocerebrosidase activity. A rare variant form of Gaucher disease is known in which saposin C required for glucosylceramide degradation is deficient. In an earlier paper we described the first cases of two siblings with the non-neuronopathic form of Gaucher disease caused by saposin C deficiency [Tylki-Szymańska et al., 2007]. In this article, we present a follow up of clinical and biochemical findings in one patient who has been treated with miglustat for two years. We observed that administration of miglustat failed to exert any favorable effect on the clinical condition, haematological parameters and glucosylceramide level in the serum. In two individuals (described in this article) very slow deterioration of the peripheral and central nervous systems was observed.
authors: Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland. a.tylki@czd.pl
authors: Anna
authors: A
authors: Tylki-Szymańska
authors: Johanna E M
authors: JE
authors: Groener
authors: Marek Leszek
authors: ML
authors: Kamiński
authors: Agnieszka
authors: A
authors: Ługowska
authors: Elżbieta
authors: E
authors: Jurkiewicz
authors: Barbara
authors: B
authors: Czartoryska
mesh_terms: D017485:1-Deoxynojirimycin / Q000031:analogs & derivatives* / Q000627:therapeutic use; D000328:Adult; D003951:Diagnostic Errors; D004791:Enzyme Inhibitors / Q000627:therapeutic use*; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D006529:Hepatomegaly / Q000188:drug therapy / Q000209:etiology; D006801:Humans; D008297:Male; D049231:Saposins / Q000172:deficiency*; D013163:Splenomegaly / Q000188:drug therapy / Q000209:etiology; D017211:Treatment Failure
chemical_list: D004791:Enzyme Inhibitors; D049231:Saposins; D017485:1-Deoxynojirimycin; C059896:miglustat