beta-Galactosidase-neuraminidase deficiency in adults: deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts.
4-methylumbelliferyl neuraminidase activity was studied in fibroblasts, leukocytes, and frozen tissues from adult patients with beta-galactosidase-neuraminidase deficiency and specific clinical manifestations. This enzyme was almost completely deficient in fibroblasts, but the residual activity was relatively high (20% of the control mean) in the leukocytes from the patients. The frozen liver from one patient showed the enzyme activity as high as controls. This enzyme consisted of two components, freeze-labile and freeze-stable, and it was demonstrated that only the labile enzyme was deficient in fibroblasts and leukocytes. The apparently normal activity of neuraminidase in frozen autopsy tissues of a patient may be explained by the loss of the labile component in control tissues after a long-term freezing. The neuraminidase activity was variable in parents and no definite conclusion was drawn on the hereditary nature of the disease.
D001921:Brain / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D005615:Freezing; D014644:Genetic Variation; D007787:Lactose Intolerance / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D009439:Neuraminidase / Q000172:deficiency* / Q000235:genetics
D009439:Neuraminidase