Enzymatic diagnosis of aspartylglycosaminuria by fluorometric assay of glycosylasparaginase in serum, plasma, or lymphocytes
Autor: | Päivi Ylikangas, Tarja Mononen, Ilkka Mononen, Kari Savolainen, Vesa Kaartinen |
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Rok vydání: | 1994 |
Předmět: |
Adult
Pathology medicine.medical_specialty Adolescent Aspartylglucosaminuria G protein Lymphocyte Clinical Biochemistry Fluorescence spectrometry Glycosylasparaginase Polymerase Chain Reaction Acetylglucosamine Reference Values medicine Humans Fluorometry Lymphocytes Child Incubation Chromatography High Pressure Liquid Finland Aged chemistry.chemical_classification Biochemistry (medical) Serum plasma Aspartylglucosylaminase DNA Hydrogen-Ion Concentration Middle Aged medicine.disease Molecular biology Lysosomal Storage Diseases Enzyme medicine.anatomical_structure chemistry Mutation |
Zdroj: | Scopus-Elsevier |
ISSN: | 1530-8561 0009-9147 |
DOI: | 10.1093/clinchem/40.3.385 |
Popis: | 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. |
Databáze: | OpenAIRE |
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