title: Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases.
abstract: A range of inborn metabolic diseases result in abnormal accumulation of acylglycines in body fluids. Therefore, detection of these metabolites is important for diagnostic purposes. (1)H and (13)C NMR spectroscopies have successfully been applied for both qualitative and quantitative determinations of various acylglycines in urine samples from patients suffering from metabolic diseases connected with excretion of these compounds. Various acylglycines were identified in test urine samples from 15 patients suffering from five different metabolic diseases, providing information which could be crucial for their diagnoses. The paper reports complete (1)H and (13)C NMR data of 11 acylglycines, which is essential for this type of NMR analysis of body fluids. NMR spectroscopy has been proven effective in determining the presence as well as the levels of acylglycines in urine. The proposed method is rapid, simple and requires minimal sample treatment.
authors.affiliation: Faculty of Chemistry, Warsaw University of Technology, Warsaw, Poland.
authors.forename: Adam
authors.initials: A
authors.lastname: Gryff-Keller
authors.forename: Anna
authors.initials: A
authors.lastname: Kraska-Dziadecka
authors.forename: Dominika
authors.initials: D
authors.lastname: Kubica
mesh_terms: D002247:Carbon Isotopes; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D006859:Hydrogen / Q000737:chemistry; D009682:Magnetic Resonance Spectroscopy; D008659:Metabolic Diseases / Q000175:diagnosis / Q000652:urine; D016482:Urinalysis
chemical_list: D002247:Carbon Isotopes; D006859:Hydrogen; D005998:Glycine