HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes.

Abstract
Serum, plasma, and lymphocytes from aspartylglycosaminuria (AGU) patients and carriers and from normal controls were incubated with a fluorescent glycosylasparaginase substrate, L-aspartic acid beta-(7-amido-4-methylcoumarin), and the release of 7-amino-4-methylcoumarin was measured fluorometrically after incubation for 1-4 h. The mean glycosylasparaginase (EC 3.5.1.26) activity in normal serum, plasma, and lymphocytes was 20.2 (SD 5.0) mU/L (n = 24), 17.5 (SD 5.0) mU/L (n = 24), and 242 (SD 108) mU/g protein (n = 17), respectively. The corresponding values in the Finnish AGU patients were 0.7 (SD 0.4) mU/L (n = 10), 0.3 (SD 0.3) mU/L (n = 10), and 6.0 (SD 4.6) mU/g protein (n = 7). No overlapping values were obtained between the AGU patients and the carriers in any of the samples, but the values between the carriers and controls were overlapping in 28 of 29 serum, 22 of 29 plasma, and 4 of 21 lymphocyte samples. Thus, the fluorometric glycosylasparaginase assay in various blood samples allows specific detection of the enzyme defect in AGU, but cannot be used for reliable detection of carriers of the disease.
AuthorsI Mononen, T Mononen, P Ylikangas, V Kaartinen, K Savolainen
JournalClinical chemistry (Clin Chem) Vol. 40 Issue 3 Pg. 385-8 (Mar 1994) ISSN: 0009-9147 [Print] England
PMID8131272 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • N-acetylglucosaminylasparagine
  • DNA
  • Aspartylglucosylaminase
  • Acetylglucosamine
Topics
  • Acetylglucosamine (analogs & derivatives, urine)
  • Adolescent
  • Adult
  • Aged
  • Aspartylglucosylaminase (blood, genetics)
  • Child
  • Chromatography, High Pressure Liquid
  • DNA (blood, genetics)
  • Finland
  • Fluorometry
  • Humans
  • Hydrogen-Ion Concentration
  • Lymphocytes (enzymology)
  • Lysosomal Storage Diseases (diagnosis, genetics)
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction
  • Reference Values

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: