Detection of acylglycines in urine by 1H and 13C NMR for the diagnosis of inborn metabolic diseases
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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. 1H and 13C 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 1H and 13C 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.
- Aramaki S, Lehotay D, Sweetman L, Nyhan WL, Winter SC, Middleton B (1991) Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency. J Inherit Metab Dis 14: 63-74.
- Bal D, Kraska-Dziadecka A, Gradowska W, Gryff-Keller A (2008) Investigation of a wide spectrum of inherited metabolic diseases by 13C NMR spectroscopy. Acta Biochim Pol 55: 107-118.
- Beckmann N (1995) 13C Magnetic resonance spectroscopy as a noninvasive tool for metabolic studies on humans. In Carbon-13 NMR Spectroscopy of Biological Systems, Beckmann N, ed, pp 269-322, Academic Press, New York.
- Bonafe L, Troxler H, Kuster T, Heizmann CW, Chamoles NA, Burlina AB, Blau N (2000) Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. Mol Genet Metab 69: 302-311.
- Brusilow SW (1991) Techniques in Diagnostic Human Biochemical Genetics : A Laboratory Manual. Hommes FA, ed, Wiley-Liss, New York.
- Carter HE, Frank RL, Johnston HW (1955) Carbobenzoxy chloride and derivatives. Org Synth Call 3: 167-169.
- Costa CG, Guerand WS, Struys EA, Holwerda U, ten Brink HJ, Tavares de Almeida I, Duran M, Jakobs C (2000) Quantitative analysis of urinary acylglycines for the diagnosis of β-oxidation defects using GC-NCI-MS. J Pharm Biomed Anal 21: 1215-1224.
- Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA (2008) NMR spectroscopy of Aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed 21: 138-47.
- Fan TW-M (1996) Metabolite Profiling by One and Two-Dimensional NMR Analysis of Complex Mixtures. Prog Nucl Magn Reson Spectrosc 28: 161-219.
- Fong BM, Tam S, Leung KS (2012) Quantification of acylglycines in human urine by HPLC electrospray ionization-tandem mass spectrometry and the establishment of pediatric reference interval in local Chinese. Talanta 88: 193-200.
- Iles RA, Hind AJ, Chalmers RA (1985) Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias. Clin Chem 31: 1795-1801.
- Kimura M, Yamaguchi SJ (1999) Screening for fatty acid beta oxidation diseases. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry. J Chromatogr B Biomed Sci Appl 731: 105-110.
- La Marca G, Rizzo C (2011) Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS. Methods Mol Biol 708: 73-98.
- Lehnert W, Hunkler D (1986) Possibilities of selective screening for inborn errors of metabolism using high-resolution 1H-FT-NMR spectrometry. Eur J Pediatr 145: 260-266.
- Lewis-Stanislaus AE, Li L (2010) A Method for Comprehensive Analysis of Urinary Acylglycines by Using Ultra-Performance Liquid Chromatography Quadrupole Linear Ion Trap Mass Spectrometry. J Am Soc Mass Spectrom 21: 2105-2116.
- Lindon JC, Nicholson JK, Everett JR (1999) NMR spectroscopy of biofluids. In Annual reports on NMR spectroscopy, Webb GA, ed, 38, pp 1-88, Academic Press, London.
- Moolenaar SH, Engelke UFH, Hoenderop SMGC, Sewell AC, Wagner L, Wevers RA (2002) Handbook of 1H-NMR spectroscopy in inborn errors of metabolism. Webb GA, ed, SPS Verlagsgesellschaft, Heilbronn.
- Ombrone D, Salvatore F, Ruoppolo M (2011) Quantitative liquid chromatography coupled with tandem mass spectrometry analysis of urinary acylglycines: Application to the diagnosis of inborn errors of metabolism. Anal Biochem 417: 122-128.
- Pasquali M, Monsen G, Richardson L, Alston M, Longo N (2006) Biochemical findings in common inborn errors of metabolism. Am J Med Genet Part C Semin Med Genet 142C: 64-76.
- Pinheiro GM, Basso EA, Fiorin BC, Cendes F, Rittner R, Oliveira AN, Höehr NF (2009) A fast 1H NMR spectroscopy procedure for quantitative determination of N-acetylaspartate in urine samples. Clin Chim Acta 404: 166-168.
- Saude EJ, Slupsky CM, Sykes BD (2006) Optimization of NMR analysis of biological fluids for quantitative accuracy. Metabolomics 2: 113-123.
- Tavazzi B, Lazzarino G, Leone P, Amorini AM, Bellia F, Janson CG, Di Pietro V, Ceccarelli L, Donzelli S, Francis JS, Giardina B (2005) Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism. Clin Biochem 38: 997-1008.
- Waddell L, Wiley V, Carpenter K, Bennetts B, Angel L, Andresen BS, Wilcken B (2006) Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. Mol Genet Metab 87: 32-39.
- Zuppi C, Messana I, Forni F, Rossi C, Pennacchietti L, Ferrari F, Giardina B (1997) 1H NMR spectra of normal urines: Reference ranges of the major metabolites. Clin Chim Acta 265: 85-97.
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