Hammersen G, Houghton S, Levy H L
J Pediatr. 1975 Jul;87(1):50-57. doi: 10.1016/s0022-3476(75)80067-9.
The first recognized case of a Rennes-like variant form of galactosemia in a Caucasian individual is described. Galactose-1-phosphate uridyl transferase activity was approximately 10% of the normal in both erythrocytes and cultured skin fibroblasts. Electrophoretic mobility of the variant enzyme in erythrocytes was slower than that of normal individuals and identical to that of the two cases originally reported from Rennes, France. In normal cultured skin fibroblasts, four transferase bands were found. In this tissue, the patient again had a slower moving transferase. It is proposed that in transferase variants an altered subunit results in a specifically altered enzyme mobility analogous for each tissue.
本文描述了在一名白种人中首次确认的类似雷恩型半乳糖血症变异形式的病例。红细胞和培养的皮肤成纤维细胞中1-磷酸半乳糖尿苷酰转移酶活性约为正常水平的10%。该变异酶在红细胞中的电泳迁移率比正常个体慢，与最初报道的法国雷恩的两例病例相同。在正常培养的皮肤成纤维细胞中，发现了四条转移酶带。在该组织中，患者的转移酶迁移率再次较慢。有人提出，在转移酶变体中，亚基的改变会导致每个组织中酶的迁移率发生特异性改变。
