Stambolian D
Department of Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania.
Surv Ophthalmol. 1988 Mar-Apr;32(5):333-49. doi: 10.1016/0039-6257(88)90095-1.
Galactosemia is a disorder caused by a deficiency of any one of three possible enzymes involved in the metabolism of galactose: galactokinase, transferase or epimerase. Any single deficient enzyme can result in cataract through the accumulation of galactitol in the lens. The ophthalmologist may play an important role in this disease, since early recognition of cataract development followed by the initiation of a galactose-free diet may lead to clearing of lenticular opacities. The clinical and laboratory findings that distinguish the three enzyme deficiency disorders of galactosemia are discussed. The biochemical genetics of each enzyme also are reviewed, along with the recent evidence linking heterozygous galactokinase deficiency and presenile cataract.
半乳糖血症是一种由于参与半乳糖代谢的三种可能的酶（半乳糖激酶、转移酶或表异构酶）中任何一种缺乏而引起的疾病。任何一种单一的缺乏酶都可通过晶状体中半乳糖醇的积累导致白内障。眼科医生在这种疾病中可能发挥重要作用，因为早期识别白内障的发展并随后开始无半乳糖饮食可能会导致晶状体混浊消退。本文讨论了区分半乳糖血症三种酶缺乏症的临床和实验室检查结果。还回顾了每种酶的生化遗传学，以及最近将杂合性半乳糖激酶缺乏与早老性白内障联系起来的证据。
