Infantile Gaucher's disease: glucocerebrosidase deficiency in peripheral blood leukocytes and cultured fibroblasts.
A patient with infantile Gancher's disease is described. A marked decrease of the activity of beta-glucosidase at the lower pH 4.2 was found in peripheral blood leukocytes, whereas in cultured skin fibroblasts the activity at both pH'S 4.2 and 5.2 was decreased. Examining the leukocytes of the heterozygous parents the activities of beta-glucosidase at both pH's were within the values of controls, but the ratio's of activity of pH 5.2 to that at pH 4.2 were increased lying between the ratio's from the patient and controls.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology*; D005776:Gaucher Disease / Q000201:enzymology* / Q000235:genetics; D005959:Glucosidases / Q000172:deficiency*; D005962:Glucosylceramidase / Q000172:deficiency* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007223:Infant; D007962:Leukocytes / Q000201:enzymology*; D008247:Lysosomes / Q000201:enzymology; D008297:Male
D005959:Glucosidases; D005962:Glucosylceramidase