Simonelli F, Cotticelli L, Russo S, Di Meo A, Rinaldi E
Eye Clinic, First School of Medicine, Naples, Italy.
Ophthalmic Paediatr Genet. 1987 Nov;8(3):187-90. doi: 10.3109/13816818709031468.
The activity of red blood cell galactose-1-P-uridyl transferase in 22 patients with congenital and infantile cataract and in 18 age-matched controls was investigated. All control subjects examined showed normal enzymatic levels, while 31.8% of patients with congenital and infantile cataract presented a statistically significant reduced enzymatic activity (mean--2 SD in controls). Twenty-four parents of children with congenital and infantile cataract were also examined. Four parents were affected by congenital cataract and the other 20 showed transparent lenses. The parents were compared with a group of 20 age-matched control subjects examined previously. There was no difference in the average enzymatic activities between the groups. The results suggest that a chronic disorder of galactose metabolism may be involved in the development of congenital and infantile cataract.
对22例先天性和婴儿期白内障患者以及18例年龄匹配的对照者的红细胞半乳糖-1-磷酸尿苷转移酶活性进行了研究。所有接受检查的对照者酶水平均正常，而31.8%的先天性和婴儿期白内障患者酶活性有统计学意义的降低（对照者均值-2标准差）。还对24例先天性和婴儿期白内障患儿的父母进行了检查。4名父母患有先天性白内障，另外20名晶状体透明。将这些父母与一组先前检查过的20名年龄匹配的对照者进行比较。两组之间的平均酶活性没有差异。结果表明，半乳糖代谢的慢性紊乱可能与先天性和婴儿期白内障的发生有关。
