Hommes F A
Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta.
Am J Clin Nutr. 1993 Nov;58(5 Suppl):788S-795S. doi: 10.1093/ajcn/58.5.788S.
A review is presented of genetic defects affecting fructose metabolism in humans. Presently, six conditions have been recognized: fructose malabsorption, fructokinase deficiency, aldolase A and aldolase B deficiency, fructose-1,6-diphosphatase deficiency and D-glyceric aciduria. Clinical presentations of these conditions, enzymatic and/or molecular defects, pathophysiological consequences, and modes of treatments are discussed.
本文综述了影响人类果糖代谢的遗传缺陷。目前，已确认六种病症：果糖吸收不良、果糖激酶缺乏症、醛缩酶A和醛缩酶B缺乏症、果糖-1,6-二磷酸酶缺乏症和D-甘油酸尿症。文中讨论了这些病症的临床表现、酶学和/或分子缺陷、病理生理后果及治疗方式。
