半乳糖激酶杂合子与白内障——一家系研究

Heterozygote for Galactokinase Deficiency and Cataract—Studies in a Kindred

半乳糖激酶(galactokinase,GK)是催化半乳糖代谢的关键酶。当其活性降低或缺乏时,体内蓄积的半乳糖可被醛糖还原酶(aldose reductase,AR)还原为半乳糖醇(dulcitol),后者蓄积于晶体纤维内。

A male infant with congenital nuclear cataract associated with partial deficiency of galactokinase(GK) is reported. On ocular examination and GK assay in ten relativities of this infant patient, another five heterozygotes for GK deficiency were found, their lenses appeared to be clear. The infant took a lot of milk and milk products atfer birth, while the others took very scanty of. The relationship between the milk products intake and the development of lenticular opacities is discussed. The milk products intake should be limited in patients with GK deficiency, whether homozygotes or heterozygotes. The importance of restrict of milk in infant with GK deficiency should not be over emphasized.