Gudmand-Høyer E, Fenger H J, Kern-Hansen P, Madsen P R
Scand J Gastroenterol. 1987 Jan;22(1):24-8. doi: 10.3109/00365528708991851.
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.
对97名格陵兰人的小肠手术活检标本中的双糖酶活性进行了研究。其中5名患者，即5%，存在蔗糖酶缺乏。通过蔗糖耐量试验确诊为蔗糖吸收不良。在北极地区以外的世界各地，蔗糖酶缺乏是一种罕见的病症。根据蔗糖酶活性，将患者分为三个不同的组。中间组被认为是蔗糖酶缺陷基因的杂合子携带者。该组中的人数与根据哈迪-温伯格方程计算出的杂合子理论数量相符，这表明蔗糖酶缺乏是以简单孟德尔方式隐性遗传的。5名蔗糖酶缺乏患者中有4名也存在乳糖酶缺乏。文中讨论了其营养方面的影响。
