Cox T M
Department of Medicine, University of Cambridge, Addenbrooke's Hospital, U.K.
FASEB J. 1994 Jan;8(1):62-71. doi: 10.1096/fasebj.8.1.8299892.
Hereditary fructose intolerance is an autosomal recessive disorder that illustrates vividly the interplay between heredity and environment in the genesis of human nutritional disease. Genetically determined defects of an isozyme of fructose bisphosphate aldolase (aldolase B, which is specialized for the metabolic assimilation of dietary sugars) predispose to this widely distributed condition. Ingestion of fructose, sorbitol, or sucrose induces abdominal pain, vomiting, and metabolic disturbances--including low concentrations of blood glucose--that may prove fatal. The response to dietary exclusion is rapid and, when so treated, the disease is compatible with a normal life span. A noteworthy feature of the condition in individuals who survive the stormy period of weaning is the development of powerful aversions to fruit, nuts, and sweet-tasting foods and drinks. The incidence of dental caries is consequently much reduced.
遗传性果糖不耐受症是一种常染色体隐性疾病，它生动地说明了人类营养疾病发生过程中遗传与环境之间的相互作用。果糖二磷酸醛缩酶（醛缩酶B，专门负责膳食糖类的代谢同化）的一种同工酶存在基因决定的缺陷，这使得这种疾病广泛存在。摄入果糖、山梨醇或蔗糖会引发腹痛、呕吐和代谢紊乱，包括血糖浓度降低，这可能是致命的。对排除特定饮食的反应迅速，经过这样的治疗，这种疾病患者可以拥有正常的寿命。在度过断奶这一艰难时期的个体中，这种疾病的一个显著特征是对水果、坚果以及甜味食物和饮料产生强烈的厌恶。因此，龋齿的发病率会大大降低。
