Acid hydrolases in serum from patients with lysosomal disorders.
The activity of acid hydrolases was studied in serum from patients with mucolipidosis (II and III) and other lysosomal disorders. In mucolipidosis II and III all hydrolases examined except alpha-glucosidase, beta-glucosidase and acid phosphatase were greatly increased. High values for beta-galactosidase were seen in mucopolysaccharidosis types I and II, Gaucher's disease, juvenile amaurotic idiocy and metachromatic leucodystrophy. N-Acetyl-beta-glucosaminidase activity was high in mucopolysaccharidosis types I, II, III and Gaucher's disease. The activity of beta-glucuronidase was increased in mucopolysaccharidosis types I, II and III, Gaucher's disease, juvenile amaurotic idiocy and metachromatic leucodystrophy. Acid phosphatase had increased activity only in Gaucher's disease. In several lysosomal storage disorders no increased values could be found. It is suggested that high values in serum from patients with lysosomal storage disorders (not including mucolipidosis II and III) may depend upon liver cell damage, which disturbs the clearing of acid hydrolases from serum.
D000135:Acid Phosphatase / Q000097:blood; D005776:Gaucher Disease / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000097:blood*; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000201:enzymology; D008064:Lipidoses / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000201:enzymology*; D009083:Mucopolysaccharidoses / Q000201:enzymology
D000135:Acid Phosphatase; D006026:Glycoside Hydrolases