Measuring in vivo ureagenesis with stable isotopes

Molecular Genetics and Metabolism

Volumn 100, Issue SUPPL., 2010, Pages

  Yudkoff, Marc ^a   Ah Mew, Nicholas ^b   Daikhin, Yevgeny ^a   Horyn, Oksana ^a   Nissim, Ilana ^a   Nissim, Itzhak ^a   Payan, Irma ^a   Tuchman, Mendel ^b  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b GEORGE WASHINGTON UNIVERSITY   (United States)

Author keywords

Mass spectrometry; Stable isotopes; Urea cycle; Urea kinetics; Ureagenesis

Indexed keywords

CARBON 13; NITROGEN; NITROGEN 15; STABLE ISOTOPE;

ARTICLE; COGNITIVE DEFECT; DISEASE SEVERITY; HUMAN; IN VIVO STUDY; MEASUREMENT; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN INTAKE; SYNTHESIS; UREA CYCLE;

AMINO-ACID N-ACETYLTRANSFERASE; AMMONIUM CHLORIDE; CARBON DIOXIDE; CARBON ISOTOPES; HUMANS; ISOTOPE LABELING; UREA;

EID: 77950341556     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.02.017     Document Type: Article

References (18)

1. Urey H.C. The separation and properties of the isotopes of hydrogen. Science (1933) 566-571
2. Schoenheimer R., and Rittenberg D. Deuterium as an indicator in the study of intermediary metabolism. J. Biol. Chem. 111 (1935) 163-168
3. Krebs H.A., and Henseleit H. Untersuchungen über die Harnstoffbildung im Tierkörper. Z. Physiol. Chem. 210 (1932) 33-46
4. Schoenheimer R. The Dynamic State of Body Constituents (1942), Harvard University Press, Cambridge, MA
5. Fruton J.S. Molecules and Life: Historical Essays on the Interplay of Chemistry and Biology (1972), Wiley Interscience, New York pp. 436
6. Schoenheimer R., Rittenberg D., Foster G.L., Keston A.S., and Ratner S. The application of the nitrogen isotope N15 for the study of protein metabolism. Science 88 (1932) 599-600
7. Rittenberg D., and Waelsch H. The source of carbon for urea synthesis. J. Biol. Chem. 136 (1940) 799-800
8. Duggleby S.L., and Waterlow J.C. The end-product method of measuring whole-body protein turnover: a review of published results and a comparison with those obtained by leucine infusion. Br. J. Nutr. 94 (2005) 141-153
9. Koletzko B., Demmelmair H., Hartl W., Kindermann A., Koletzko S., Sauerwald T., and Szitanyi P. The use of stable isotope techniques for nutritional and metabolic research in paediatrics. Early Hum. Dev. 53 (1998) S77-S97
10. San Pietro S.A., and Rittenberg D. A study of the rate of protein synthesis in humans. J. Biol. Chem. 201 (1953) 445-455
11. Lee B., Yu H., Jahoor F., O'Brien W., Beaudet A.L., and Reeds P.R. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proc. Natl. Acad. Sci. USA 97 (2000) 8021-8026
12. Yudkoff M., Daikhin Y., Nissim I., Jawad A., Wilson J., and Batshaw M. In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. J. Clin. Invest. 98 (1996) 2167-2173
13. Yudkoff M., Daikhin Y., Wilson J.M., and Batshaw M. In vivo measurement of ureagenesis with stable isotopes. J. Inherit. Metab. Dis. 21 Suppl. 1 (1998) 21-29
14. Gyato K., Wray J., Huang Z.J., Yudkoff M., and Batshaw M.L. Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency. Ann. Neurol. 55 (2004) 80-86
15. Gebhardt B., Vlaho S., Fischer D., Sewell A., and Bohles H. N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. Mol. Genet. Metab. 79 (2003) 303-304
16. Caldovic L., Morizono H., Daikhin Y., Nissim I., McCarter R.J., Yudkoff M., and Tuchman M. Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J. Pediatr. 142 (2004) 552-554
17. Tuchman M., Caldovic L., Daikhin Y., Horyn O., Nissim I., Korson M., Burton B., and Yudkoff M. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr. Res. 64 (2008) 213-217
18. Ah Mew N.A., Payan I., Daikhin Y., Nissim I., Nissim I., Tuchman M., and Yudkoff M. Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis. Mol. Genet. Metab. 98 (2009) 325-330