title: Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands.
abstract: Seven cases of glycogenosis type III (amylo-1,6-glucosidase deficiency) in two probably related families from the Faroe Islands are presented. The group of patients comprised two pairs of sibs. In a total of 78 members of the two families case histories were obtained and clinical examinations, analyses of amylo-1,6-glycosidase activity in erythrocytes and leucocytes, determinations of red cell, serum and enzyme groups as well as HL-A types were performed. In addition, all patients were subjected to studies of liver function. The distribution patients in these families supports the assumption of autosomal recessive inheritance. Heterozygotes could not be diagnosed with certainty by the methods of enzyme activity analysis employed. The incidence of glycogenosis type III with amylo-1,6-glucosidase deficiency was found to be high in the Faroe Islands.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003718:Denmark; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005959:Glucosidases / Q000097:blood*; D006008:Glycogen Storage Disease / Q000235:genetics*; D006010:Glycogen Storage Disease Type III / Q000201:enzymology / Q000235:genetics*; D006680:HLA Antigens; D006579:Heterozygote; D006648:Histocompatibility; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010375:Pedigree
chemical_list: D006680:HLA Antigens; D005959:Glucosidases