title: Plasma acid hydrolases in normal adults and children, and in patients with some lysosomal storage diseases.
abstract: Optimal assay conditions are described for plasma alpha-galactosidase, beta-glactosidase, beta-glucuronidase, alpha-mannosidase, alpha-glucosidase, N-acetyl-beta-glucosaminidase, alpha-fucosidase, N-acetyl-alpha-glucosaminidase, acid phosphatase and arylsulphatase A. The levels of these activities in normal adults and children, and the stabilities of the activities on storage at -20 degrees C or 4 degrees C, are reported. The levels of these enzymic activities in plasma from patients with Fabry, Pompe, Sanfilippo A, Sanfilippo B, Tay Sachs and Hunter diseases, GM1-gangliosidosis and metachromatic leucodystrophy are described, and the possibility of using plasma hydrolase activities in the diagnosis of these conditions is discussed.
mesh_terms: D000135:Acid Phosphatase / Q000097:blood*; D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002553:Cerebroside-Sulfatase / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D006026:Glycoside Hydrolases / Q000097:blood*; D006801:Humans; D007223:Infant; D007700:Kinetics; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D013429:Sulfatases / Q000097:blood*
chemical_list: D000135:Acid Phosphatase; D013429:Sulfatases; D002553:Cerebroside-Sulfatase; D006026:Glycoside Hydrolases