Abstract
Summary: β-Glucosidase activity was measured in control subjects and in five patients with neuropathic Gaucher's disease. In three patients with Gaucher's disease, methylumbelliferyl- and p-nitrophenyl-β-d-glucopyranoside (4MU- and PIS'P-β-glucosidase) activity was almost normal in the liver but markedly reduced in the spleen and fihroblasts. In the other patients with Gaucher's disease 4MU- and PNP-β-glucosidase activity was also very much reduced in the liver, spleen, and fihroblasts.
DEAE-cellulose column chromatography with a chloride gradient elution of the liver extract from a control subject and from two patients with Gaucher's disease, exhibiting normal 4MU- and PNP-β-glucosidase activity, revealed the presence of two peaks of 4MU- and PNP-β-glucosidase activity (fractions 1 and 2). pH activity curves of β-glucosidases and Km measured with 41MU-β-glucoside in fractions 1 and 2 from patients with Gaucher's liver were identical to those from the control liver. However, fractions 1 and 2 from infantile Gaucher's liver exhibited no activity measured with glucocerebroside whereas those from juvenile Gaucher's liver showed a considerable activity.
Glucocerebroside was greatly accumulated in the liver, even though an almost normal activity of 4MU-β-glucosidase was detected in three of the five patients studied.
Speculation: Neuropathic Gaucher's disease may be divided into two biochemical groups: one exhibits normal 4MU-β-glucosidase activity in the liver but low activity in the spleen and fibroblasts; the other exhibits low activity in the liver, spleen, and fibroblasts. The deficiency of 4MU-β-glucosidase in the liver may not account for the accumulation of glucocerebroside, and the deficiency of glucocerebroside-β-glucosidase activity probably existing within reticuloendothelial cells may be more essential for the accumulation.
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T. Ritagawa, M.D., Department of Pediatrics. Nihon University School of Medicine, 1-8 Kanda-Surugadai. Chiyoda-ku, Tokyo (Japan).
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Owada, M., Sakiyama, T. & Kitagawa, T. Neuropathic Gaucher's Disease with Normal 4− MethyIumbelliferyl-β-glucosidase Activity in the Liver. Pediatr Res 11, 641–646 (1977). https://doi.org/10.1203/00006450-197705000-00004
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DOI: https://doi.org/10.1203/00006450-197705000-00004
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