Peltier A, Herbeuval E, Brondeau M T, Belleville F, Nabet P
Biomedicine. 1977 May;26(3):194-201.
The authors describe two cases of clinical Fabry's disease. The first patient presents a deficiency of alpha galactosidase and a urinary excretion of ceramide trihexosides and dihexosides ; the second patient had a normal alpha galactosidase and normal excretion of urinary lipids. In this latter case the Km and the activity of the enzyme measured at different pH were similar to those of normal enzyme. The other lysosomal enzymes, beta galactosidase, beta glucosidase, hexosaminidases A and B, alpha fucosidase, arylsulfatases, phosphatase acids were also measured in patient 2 and all have normal activities. There is no urinary excretion of glycolipids or mucopolysaccharides. Yet this patient has an accumulation of material in his fibroblasts and renal cells. The authors also present a genetic study.
作者描述了两例临床法布里病病例。首例患者存在α-半乳糖苷酶缺乏以及神经酰胺三己糖苷和二己糖苷的尿排泄；第二例患者的α-半乳糖苷酶正常且尿脂质排泄正常。在后一例中，在不同pH值下测得的该酶的米氏常数（Km）和活性与正常酶相似。还对第二例患者的其他溶酶体酶，即β-半乳糖苷酶、β-葡萄糖苷酶、己糖胺酶A和B、α-岩藻糖苷酶、芳基硫酸酯酶、酸性磷酸酶进行了检测，所有这些酶的活性均正常。没有糖脂或粘多糖的尿排泄。然而，该患者的成纤维细胞和肾细胞中有物质蓄积。作者还进行了一项遗传学研究。
