Serum alpha-N-acetylglucosaminidase: determination, characterization, and corrective activity in Sanifilippo B fibroblasts.
Assays for the determination of serum alpha-N-acetylglucosaminidase (EC 3.2.1.50) activity are described employing p-nitrophenyl-N-acetyl-alpha-D-glucosaminide, phenyl-N-acetyl-alpha-D-glucosaminide, and UDP-N-acetylglucosamine as substrates. A log normal distribution of the serum enzyme activity was found. The determination of serum alpha-N-acetylglucosaminidase activity proved to be a valuable tool for the recognition of homozygous and heterozygous carriers of the Sanfilippo B gene.
D000118:Acetylglucosaminidase / Q000097:blood* / Q000652:urine; D004796:Clinical Enzyme Tests; D004356:Drug Storage; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood*; D006720:Homozygote; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007700:Kinetics; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D009084:Mucopolysaccharidosis III / Q000175:diagnosis / Q000201:enzymology*; D010873:Pinocytosis; D014537:Uridine Diphosphate N-Acetylglucosamine
D014537:Uridine Diphosphate N-Acetylglucosamine; D006596:Hexosaminidases; D000118:Acetylglucosaminidase