title: Diagnosis of the sphingolipidoses with labelled natural substrates.
abstract: The genetic heterogeneity of sphingolipidoses is underlined and the desirability of using natural labelled substrates for the diagnoses of each new index case strongly emphasized. Recent studies of our Scandinavian Krabbe families (more than 50) have repeatedly shown that there is no method developed which can be used for the detection of carriers of the mutant gene in leukocytes or lymphocytes. Also described are enzymic studies in two forms of Gaucher disease which further demonstrate the importance of natural substrates for the diagnoses of the disease in leukocytes and cultivated amniotic fluid cells.
mesh_terms: D000118:Acetylglucosaminidase / Q000172:deficiency; D002478:Cells, Cultured; D005776:Gaucher Disease / Q000175:diagnosis / Q000201:enzymology; D006801:Humans; D007787:Lactose Intolerance; D007962:Leukocytes / Q000201:enzymology; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology; D013106:Sphingolipidoses / Q000175:diagnosis* / Q000201:enzymology; D001617:beta-Glucosidase / Q000172:deficiency
chemical_list: D001617:beta-Glucosidase; D000118:Acetylglucosaminidase