Pitfalls in the use of artificial substrates for the diagnosis of Gaucher's disease.
A patient with Gaucher's disease is described, in whom the disease could not be diagnosed enzymically in liver and leucocytes using artificial substrate 4-methylumbelliferyl beta-glucoside. Normal activity was found in the liver, and about 60% of control activity was determined in the patient's leucocytes. In contrast, when [14C]-N-stearoyl glucocerebroside was employed as a substrate, activity as low as 5% of control has been found in all the proband's tissues, and carrier levels were determined in the proband's parents and maternal uncle.
D000328:Adult; D004796:Clinical Enzyme Tests; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000175:diagnosis*; D005959:Glucosidases / Q000378:metabolism*; D005960:Glucosides; D005963:Glucosylceramides; D006801:Humans; D006923:Hymecromone; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D001617:beta-Glucosidase / Q000378:metabolism*
D005960:Glucosides; D005963:Glucosylceramides; D006923:Hymecromone; D005959:Glucosidases; D001617:beta-Glucosidase