Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.
This paper deals with the measurement of acid hydrolases in uncentrifuged and centrifuged saliva of normal controls and the determination of some of their physical characteristics such as pH optimum, thermal stability, and residual activity after freezing and storage. From this study it appears that beta-D-glucosidase sediments totally, whereas the other enzymes show varying residual activity in the supernatant after centrifugation. In the saliva from 2 patients with metachromatic leukodystrophy and 2 patients with fucosidosis a deficiency of arylsulphatase A and alpha-L-fucosidase, respectively, was found.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002553:Cerebroside-Sulfatase / Q000172:deficiency; D005643:Fucose / Q000378:metabolism*; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D008247:Lysosomes / Q000201:enzymology*; D011489:Protein Denaturation; D012463:Saliva / Q000201:enzymology*; D005644:alpha-L-Fucosidase / Q000172:deficiency
D005643:Fucose; D002553:Cerebroside-Sulfatase; D006026:Glycoside Hydrolases; D005644:alpha-L-Fucosidase