Kaloud H, Sitzmann F C, Schenker H, Prestele H
Dtsch Med Wochenschr. 1975 Apr 18;100(16):873-6. doi: 10.1055/s-0028-1106308.
Activity of galactokinase (69 subjects) and galactose-1-phosphate uridyl transferase (92 subjects) were measured in haemolysed blood from children (predominantly of school age) with congenital cataract. chi2 tests, gene-frequency determination and metabolic-kinetic studies indicated that the changes in the lens in congenital cataract are partly due to a manifest or latent disorder of galactose metabolism, in particular a glactose-1-phosphate uridyl transferase defect.
对患有先天性白内障的儿童(主要是学龄儿童)溶血血液中的半乳糖激酶活性(69名受试者)和1-磷酸半乳糖尿苷转移酶活性(92名受试者)进行了测量。卡方检验、基因频率测定和代谢动力学研究表明,先天性白内障晶状体的变化部分归因于半乳糖代谢的明显或潜在紊乱,尤其是1-磷酸半乳糖尿苷转移酶缺陷。