Cohn J, Wang P, Hauge M, Henningsen K, Jensen B, Svejgaard A
Hum Hered. 1975;25(2):115-26. doi: 10.1159/000152716.
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.
本文介绍了法罗群岛两个可能有亲缘关系的家族中的7例III型糖原贮积病(淀粉-1,6-葡萄糖苷酶缺乏症)患者。患者群体包括两对同胞。在这两个家族总共78名成员中,获取了病史并进行了临床检查,分析了红细胞和白细胞中的淀粉-1,6-糖苷酶活性,测定了红细胞、血清和酶型以及HL-A型。此外,所有患者都接受了肝功能研究。这些家族中患者的分布情况支持常染色体隐性遗传的假设。采用的酶活性分析方法无法确诊杂合子。研究发现,法罗群岛淀粉-1,6-葡萄糖苷酶缺乏的III型糖原贮积病发病率很高。