title: Norrbottnian type of Gaucher disease--clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation.
abstract: The Norrbottnian type of Gaucher disease is a well defined nosological entity with a characteristic course and clinical manifestations. The disease is caused by a deficiency of the enzyme glucosylceramidase (cerebroside-beta-glucosidase). Studies of genomic DNA and cDNA encoding the enzyme show a single base substitution in exon 10 in the Norrbottnian patients. The enzymic lesion causes an accumulation of glucosylceramide and glucosylsphingosine in cells of the monocyte-macrophage system, particularly in spleen, liver and bone marrow. Early splenectomy results in severe symptoms from skeleton and CNS, owing to accelerated storage of glucosylceramide in these organs. Bone marrow transplantation had a life-saving effect and seems to be the method of choice for beneficial enzyme replacement therapy.
authors.affiliation: Department of Psychiatry and Neurochemistry, University of Göteborg, St. Jörgen Hospital, Hisings Backa, Sweden.
authors.forename: L
authors.initials: L
authors.lastname: Svennerholm
authors.forename: A
authors.initials: A
authors.lastname: Erikson
authors.forename: C G
authors.initials: CG
authors.lastname: Groth
authors.forename: O
authors.initials: O
authors.lastname: Ringdén
authors.forename: J E
authors.initials: JE
authors.lastname: Månsson
mesh_terms: D000293:Adolescent; D016026:Bone Marrow Transplantation; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005487:Foam Cells / Q000378:metabolism / Q000473:pathology; D005500:Follow-Up Studies; D005776:Gaucher Disease / Q000145:classification / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D005962:Glucosylceramidase / Q000032:analysis / Q000172:deficiency* / Q000235:genetics / Q000627:therapeutic use; D005963:Glucosylceramides / Q000378:metabolism; D006801:Humans; D007223:Infant; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D009154:Mutation; D013156:Splenectomy / Q000009:adverse effects; D013548:Sweden / Q000453:epidemiology
chemical_list: D005963:Glucosylceramides; D004247:DNA; D005962:Glucosylceramidase