Sucrase deficiency in Greenland. Incidence and genetic aspects.
The disaccharidase activities in small-intestinal surgical biopsy specimens from 97 Greenlanders were investigated. Five of the patients, or 5%, had sucrase deficiency. The diagnosis, sucrose malabsorption, was established by sucrose tolerance tests. In all parts of the world other than the arctic regions sucrase deficiency is a rare condition. The patients were divided into three separate groups in accordance with their sucrase activity. The middle group was considered to be heterozygote carriers of the sucrase-deficient gene. The number of people in the group corresponded to the theoretical number of heterozygotes in accordance with the Hardy-Weinberg equation, suggesting that sucrase deficiency is recessively inherited in a simple Mendelian fashion. Four of the five patients with sucrase deficiency had deficiency of lactase as well. The nutritional implications are discussed.
D000328:Adult; D000368:Aged; D002239:Carbohydrate Metabolism, Inborn Errors / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006116:Greenland; D006579:Heterozygote; D006801:Humans; D007421:Intestine, Small / Q000201:enzymology*; D008297:Male; D008875:Middle Aged; D013393:Sucrase / Q000172:deficiency*; D013395:Sucrose / Q000378:metabolism
D013395:Sucrose; D013393:Sucrase