Galactosialidosis: low beta-galactosidase activity in serum after long-term clotting.

Serum beta-galactosidase activity was found to be markedly increased in clotting blood from normal subjects, but patients with galactosialidosis showed only a slight increase of this enzyme activity. Consequently, the beta-galactosidase activity was low in serum after long-term clotting in patients with this disease. The mechanism of the enzyme activation is unknown.

beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case.

Three male siblings in a Japanese family were affected with beta-galactosidase-neuraminidase deficiency (galactosialidosis). One patient died at 45 years of age, and postmortem liver and brain tissues were studied enzymatically. The residual activity of neuraminidase was relatively high in these tissues.

Biochemical analysis of cerebrum of fetal rat X-irradiated in utero--DNA, RNA, superoxide dismutase and lipid peroxide--.

Wistar rats were X-irradiated in utero and biochemical analysis of the cerebrum was performed on gestational day (g d) 21. The cerebral weight was significantly lower in the irradiated group on g d 13 with above 75R than in the control group. The contents of DNA, RNA and protein were decreased in the cerebrum of the fetuses irradiated with 100R on g d 13 when calculated per cerebrum, and DNA only was decreased occasionally when expressed as per gm wet weight.

Galatosialidosis (beta-galactosidase-neuraminidase deficiency): clinical and biochemical studies on 13 patients.

Thirteen patients with galactosialidosis (beta-galactosidase-neuraminidase deficiency) from 9 families including two autopsy cases were studied from clinical, genetic, cytological and biochemical standpoints. Coarse facies, myoclonus, cerebellar ataxia, angiokeratoma, loss of vision, corneal opacity and cherry-red spots were the main signs and symptoms although these clinical manifestations were widely variable in individual cases. It is not yet known whether these clinical variations represent genetic heterogeneity or not.

Beta-galactosidase-neuraminidase deficiency: restoration of beta-galactosidase activity by protease inhibitors.

Beta-Galactosidase was partially restored by protease inhibitors, leupeptin, chymostatin and E-64 in cultured fibroblasts from three patients with beta-galactosidase-neuraminidase deficiency. Pepstatin did not activate this enzyme. Neuraminidase was not affected by any of these compounds in the culture medium.

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.