Kirkman H N
Brain and Development Research Center, University of North Carolina School of Medicine, Chapel Hill 27599-7250.
J Inherit Metab Dis. 1992;15(1):4-16. doi: 10.1007/BF01800337.
An earlier claim of a deficiency of uridine diphosphate galactose in erythrocytes of galactosaemia patients was not confirmed. Enzymic techniques similar to those of the earlier investigators were used to determine not only the concentration of uridine diphosphate galactose but also the ratio of this concentration to the sum of the uridine sugar diphosphates (uridine diphosphate galactose and uridine diphosphate glucose). The values in erythrocytes of galactosaemic subjects were similar to those of non-galactosaemic children on a galactose-restricted diet and to those of normal adults. These results cast doubt on the claim of a major deficiency of uridine diphosphate galactose in galactosaemia and on the need for treating galactosaemic children with uridine.
早期关于半乳糖血症患者红细胞中尿苷二磷酸半乳糖缺乏的说法未得到证实。采用了与早期研究者类似的酶学技术，不仅测定尿苷二磷酸半乳糖的浓度，还测定该浓度与尿苷二糖磷酸（尿苷二磷酸半乳糖和尿苷二磷酸葡萄糖）总和的比值。半乳糖血症患者红细胞中的数值与限制半乳糖饮食的非半乳糖血症儿童以及正常成年人的数值相似。这些结果使人怀疑半乳糖血症中尿苷二磷酸半乳糖严重缺乏的说法，以及用尿苷治疗半乳糖血症患儿的必要性。
