Wenger D A, Sattler M, Clark C, Tanaka H, Suzuki K, Dawson G
Science. 1975 Jun 27;188(4195):1310-2. doi: 10.1126/science.1145196.
Lactosyl ceramide beta-galactosidase activities in the fibroblasts from the previously described patient with so-called "lactosyl ceramidosis" were reexamined with the two recently developed assay methods which appear to measure two genetically distinct enzymes that can degrade this substrate. No deficiency of either of the lactosyl ceramide-cleaving enzymes was observed. In addition, sphingomyelinase activity was only one-sixth of normal, while all other enzymes examined were within the normal ranges.
利用最近开发的两种检测方法，对先前描述的患有所谓“乳糖基神经酰胺沉积症”患者的成纤维细胞中的乳糖基神经酰胺β-半乳糖苷酶活性进行了重新检测，这两种方法似乎可检测两种在遗传上不同但都能降解该底物的酶。未观察到任何一种切割乳糖基神经酰胺的酶存在缺陷。此外，鞘磷脂酶活性仅为正常水平的六分之一，而检测的所有其他酶活性均在正常范围内。
