Kobayashi T, Kira J, Shinnoh N, Goto I, Kuroiwa Y
J Neurol Sci. 1985 Feb;67(2):179-85. doi: 10.1016/0022-510x(85)90114-5.
A report is presented on biochemical studies of the fibroblasts from a 26-year-old man with Fabry's disease whose clinical picture was atypical. The patient had severe pain in the extremities, but no angiokeratomas, corneal clouding or hypohidrosis. The trihexosylceramidase activity in the fibroblasts in vitro was deficient. The level and Km value of the residual activity were similar to levels seen in typical Fabry's patients. However, fibroblasts from the patient cultured in medium supplemented with [3H]ceramide trihexoside hydrolyzed the labeled ceramide trihexoside much higher than did cells from typical Fabry's patients, implying that the patient has a partial defect in hydrolysis of trihexosylceramide in cultured fibroblasts.
本文报告了对一名26岁法布里病男性患者成纤维细胞的生化研究，该患者临床表现不典型。患者四肢剧痛，但无血管角质瘤、角膜混浊或少汗。体外培养的成纤维细胞中三己糖神经酰胺酶活性缺乏。残余活性的水平和米氏常数与典型法布里病患者相似。然而，在添加了[3H]三己糖神经酰胺的培养基中培养的该患者的成纤维细胞，对标记的三己糖神经酰胺的水解程度远高于典型法布里病患者的细胞，这表明该患者培养的成纤维细胞在三己糖神经酰胺水解方面存在部分缺陷。
