Heyne K, Shin Y S, Schwinger E
Klinik für Pädiatrie, Medizinischen Universität zu Lübeck.
Monatsschr Kinderheilkd. 1988 Dec;136(12):828-30.
The mother of a boy who suffered from classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency) has unilateral cataracta. In addition the boy had a decreased activity of the UDP-galactose-4-epimerase. The latter defect could also be demonstrated in the erythrocytes from the mother and the grandmother. In contrast to the finding of cataracta in the mother the grandmother with the same type of double heterozygosity was ophthalmologically normal. The implication of partial maternal disorders of galactose metabolism will be discussed in view of their possible role for the origin of cataracta.
一名患有经典型半乳糖血症（1-磷酸半乳糖尿苷转移酶缺乏症）男孩的母亲患有单侧白内障。此外，该男孩的UDP-半乳糖-4-表异构酶活性降低。母亲和祖母的红细胞中也能证实存在后一种缺陷。与母亲患有白内障的情况不同，具有相同类型双重杂合性的祖母在眼科检查中正常。鉴于半乳糖代谢的部分母体紊乱可能在白内障发病中的作用，将对其影响进行讨论。
