Investigation of a wide spectrum of inherited metabolic disorders by 13C NMR spectroscopy

• Autorzy: Bal D. , Kraska-Dziadecka A. , Gradowska W. , Gryff-Keller A.
• Języki publikacji: EN

Abstrakty

EN

High-resolution  1H NMR spectroscopy of body fluids has proved to be very useful in diagnostics of inherited metabolic diseases, whereas  13C NMR remains almost unexploited. In this paper the application of  13C NMR spectroscopy of fivefold concentrated urine samples for diagnosis of selected metabolic diseases is reported. Various marker metabolites were identified in test urine samples from 33 patients suffering from 10 different diseases, providing information which could be crucial for their diagnoses. Spectra were accumulated for 2 h or overnight when using spectrometers operating at 9.4 or 4.7 T magnetic fields, respectively. Interpretation of the measurement results was based on a comparison of the peak positions in the measured spectrum with reference data. The paper contains a table with  13C NMR chemical shifts of 73 standard compounds. The method can be applied individually or as an auxiliary technique to  1H NMR or any other analytical method.

Słowa kluczowe

EN

mass spectrometry; capillary electrophoresis; inherited metabolic disease; diagnostics; urine; analytical method; marker metabolite; spectroscopy; high performance liquid chromatography

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2008
• Tom: 55
• Numer: 1
• Opis fizyczny: p.107-118,fig.,ref.

Twórcy

autor

Bal D.

• Warsaw University of Technology, Noaakowskiego 3, 00-664 Warsaw, Poland

autor

Kraska-Dziadecka A.

autor

Gradowska W.

autor

Gryff-Keller A.

Bibliografia

• Al-Dirbashi OY, Rashed MS, Ten Brink HJ, Jakobs C, Filimban N, Al-Ahaidib LY, Jacob M, Al-Sayed MM,Al-Hassnan Z, Faqeih E (2006) Determination of succinylacetone in dried blood spots and liquid urine as a dansylhydrazone by liquid chromatography tandem mass spectrometry. J Chromatogr B 831: 274-280.
• Barker CC (1953) The dehydration and racemisation of N- acyl-L-aspartic acids by acetic anhydride. J Chem Soc 453-456.
• Basinger AA, Booker JK, Frazier DM, Koeberl DD, Sullivan AJ, Muenzer J (2006) Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab 88: 90-92.
• Beckmann N (1995) Carbon-13 NMR Spectroscopy of Biological Systems, pp 269-322. San Diego, Academic Press.
• Blau N, Duran M, Blaskovics M (1996) Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases. 1st edn, Chapman & Hall Medical, London, Weinheim, New York, Tokio, Melbourne, Madras.
• Brusilow SW (1991) Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. Hommes FA, ed, pp 345-357. John Wiley & Sons Inc.
• Burlina AP, Ferrari V, Divry P, Gradowska W, Jakobs C, Bennett MJ, Sewell AC, Dionisi-Vici C, Burlina AB (1999) N-Acetylaspartylglutamate in Canavan disease: an adverse effector? Eur J Pediatr 158: 406-409.
• Carter HE, Frank RL, Johnston HW (1955) Carbobenzoxy chloride and derivatives. Org Synth Call 3: 167-169.
• Chalmers RA, Lawson AM, Watts RWE, Tavili AS, Kamerling JP, Hey E, Ogilvie D (1980) D-2-Hydroxyglutaric aciduria: case report and biochemical studies. J Inherit Metab Dis 3: 11-15.
• Coffman DD, Cramer R, Mochel WE (1958) Syntheses by free-radical reactions. V. A new synthesis of carboxylic acids. J Am Chem Soc 80: 2882-2887.
• Constantinou MA, Papakonstantinou E, Spraul M, Sevas- tiadou S, Costalos C, Koupparis MA, Shulpis K, Tsantili-Kakoulidou A, Mikros E (2005) H-l NMR-based metabonomics for the diagnosis of inborn errors of metabolism in urine. Anal Chim Acta 542: 169-177.
• Decking UKM (1998) 13C-MR spectroscopy - how and why? Magn Reson Mater Phy 6: 103-104.
• Dionisi-Vici C, Deodato F, Roschinger W, Rhead W, Wilcken B (2006) 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29: 383-389.
• Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1980) L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis 3: 109- 112.
• Fink RM, McGaughey C, Cline R, Fink K (1956) Metabolism of intermediate pyrimidine reduction products in vitro. J Biol Chem 218: 1-7.
• Gerhard U, Thomas S, Mortishire-Smith R (2003) Accelerated metabolite identification by "extraction-NMR". J Pharm Biomed Anal 32: 531-538.
• Held PK (2006) Disorders of tyrosine catabolism. Mol Genet Metab 88: 103-106.
• 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.
• Keun HC, Beckonert O, Griffin JL, Richter C, Moskau D, Lindon JC, Nicholson JK (2002) Cryogenic probe 13C NMR spectroscopy of urine for metabonomic studies. Anal Chem 74: 4588-4593.
• Krawczyk H, Gryff-Keller A, Gradowska W, Duran M, Pronicka E (2001) C-13 NMR spectroscopy: a convenient tool for detection of argininosuccinic aciduria. J Pharm Biomed Anal 26: 401-408.
• Kuhara T (2002) Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. J Chromatogr B 781: 497-517.
• 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.
• Lindon JC, Nicholson JK, Everett JR (1999) Annual reports on NMR spectroscopy, NMR spectroscopy of biofluids. Webb GA, ed, 38: 1-88, Academic Press, London.
• Loffler M, Fairbanks LD, Zameitat E, Marinaki AM, Simmonds HA (2005) Pyrimidine pathways in health and disease. Trends Mol Med 11: 430-437.
• Markus APJA, Swinkels DW, Jakobs BS, Wevers RA, Trijbels JMF, Willems HL (2001) New technique for diagnosis and monitoring of alcaptonuria: quantification of homogentisic acid in urine with mid-infrared spectrometry. Anal Chim Acta 429: 287-292.
• Mayatepek E (1999) 5-Oxoprolinuria in patients with and without defects in the gamma-glutamyl cycle. Eur J Pediatr 158: 221-225.
• Mc.Kusick VA (1994) Mendelian Inheritance in Man 11th edn. Johns Hopkins University Press, Baltimore, MD.
• Moolenaar SH, Gohlich-Ratmann G, Engelke UFH, Spraul M, Humpfer E, Dvortsak P, Voit T, Hoffmann GF, Brautigam C, van Kuilenburg AB, van Gennip A, Vreken P, Wevers RA (2001) Beta-ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine. Magn Reson Med 46: 1014-1017.
• 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.
• Podebrad F, Heil M, Scharrer A, Feldmer S, Schulte-Mater O, Mosandl A, Sewell AC, Bohles HJ (1999) Analysis of methylcitric acid by enantioselective multidimensional gas chromatography-mass spectrometry. High Resol Chromatogr 22: 604-608.
• Rashed MS, AlAmoudi M, Aboul-Enein HY (2000) Chiral liquid chromatography tandem mass spectrometry in the determination of the configuration of 2-hydroxy- glutaric acid in urine. Biomed Chromatogr 14: 317-320.
• Robinson HB (2006) Lactic acidemia and mitochondrial disease. Mol Genet Metab 89: 3-13.
• Scriver CR, Beaudet AL, Sly WS, Valle D (2001) The Metabolic and Molecular Bases of Inherited Disease. 8th edn. McGraw-Hill, New York.
• Sweetman L (1991) Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual. Hommes FA, ed, pp 143-176. John Wiley & Sons Inc.
• Tanaka K, Isselbacher KJ (1967) The isolation and identification of N-isovalerylglycine from urine of patients with isovaleric academia. J Biol Chem 242: 2966-2972.
• Tanguay RM, Jorquera R, Poudrier J, StLouis M (1996) Tyrosine and its catabolites: from disease to cancer. Acta Biochim Polon 43: 209-216.
• van Dyk E, Pretorius PJ (2005) DNA damage and repair in mammalian cells exposed to p-hydroxyphenylpyruvic acid. Biochem Biophys Res Commun 338: 815-819.
• Wevers RA, Engelke U, Heerschap A (1994) High-resolu- tion 1H-NMR spectroscopy of blood plasma for metabolic studies. Clin Chem 40: 1245-1250.
• Wevers RA, Engelke UFH, Moolenaar SH, Brautigam C, de Jong JGN, Duran R, de Abreu RA, van Gennip AH (1999) 1H-NMR spectroscopy of body fluids: inborn errors of purine and pyrimidine metabolism. Clin Chem 45: 539-548.
• Winitz M, Bloch-Frankenthal L, Izumiya N, Birnbaum SM, Baker CG, Greenstein JP (1956) Studies on diastereoisomeric α-amino acids and corresponding α-hydroxy acids. VII. Influence of ß-configuration on enzymie susceptibility. J Am Chem Soc 78: 2423-2430.
• 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.