Brivet M, Abadie V, Soni T, Cheron G, Dufier J L
Arch Dis Child. 1986 May;61(5):445-8. doi: 10.1136/adc.61.5.445.
Previous reports have suggested that partial maternal deficiency of galactose metabolising enzymes, particularly of galactokinase activity, could contribute to the formation of cataracts during developmental life, even in a fetus that is enzymatically normal. We have assayed erythrocyte galactokinase and uridyltransferase activities in 12 families with children suffering early onset cataracts. We did not observe any abnormality of galactose metabolising enzymes in either the mothers or the infants. Furthermore, we have looked for the occurrence of cataracts among children of seven mothers heterozygous for one of these two deficiencies. No children with enzyme activity in the normal or heterozygous range had cataracts.
先前的报告表明，母亲体内半乳糖代谢酶部分缺乏，尤其是半乳糖激酶活性缺乏，可能会导致发育过程中白内障的形成，即使是酶活性正常的胎儿也可能出现这种情况。我们检测了12个患有早发性白内障儿童的家庭中红细胞半乳糖激酶和尿苷转移酶的活性。我们在母亲和婴儿中均未观察到半乳糖代谢酶有任何异常。此外，我们还对7位这两种酶缺陷之一的杂合子母亲的孩子进行了白内障发生情况的调查。酶活性处于正常或杂合范围的孩子均未患白内障。
