Iranian Journal of Pediatrics

Published by: Kowsar

Microsomal Liver Function in Patients with Phenylketonuria Assessed by 13C-Methacetin Breath Test

Renata Mozrzymas 1 , Monika Dus-Zuchowska 2 , Lukasz Kaluzny 2 , Anna Miskiewicz-Chotnicka 2 , Aleksandra Lisowska 2 and Jaroslaw Walkowiak 2 , *
Authors Information
1 Voivodeship Hospital, Wroclaw, Poland
2 Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland
Article information
  • Iranian Journal of Pediatrics: December 2017, 27 (6); e12535
  • Published Online: November 18, 2017
  • Article Type: Research Article
  • Received: May 4, 2017
  • Revised: July 17, 2017
  • Accepted: October 14, 2017
  • DOI: 10.5812/ijp.12535

To Cite: Mozrzymas R, Dus-Zuchowska M, Kaluzny L, Miskiewicz-Chotnicka A, Lisowska A, et al. Microsomal Liver Function in Patients with Phenylketonuria Assessed by 13C-Methacetin Breath Test, Iran J Pediatr. 2017 ; 27(6):e12535. doi: 10.5812/ijp.12535.

Copyright © 2017, Iranian Journal of Pediatrics. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License ( which permits copy and redistribute the material just in noncommercial usages, provided the original work is properly cited.
1. Background
2. Methods
3. Results
4. Discussion
  • 1. Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med. 2014; 16(2): 188-200[DOI][PubMed]
  • 2. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet. 2010; 376(9750): 1417-27[DOI][PubMed]
  • 3. Scriver CR. The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat. 2007; 28(9): 831-45[DOI][PubMed]
  • 4. Jervis GA. Phenylpyruvic oligophrenia deficiency of phenylalanine-oxidizing system. Proc Soc Exp Biol Med Soc Exp Biol Med NYN. 1953; 82(3): 514-5
  • 5. Turki A, Murthy G, Ueda K, Cheng B, Giezen A, Stockler-Ipsiroglu S, et al. Minimally invasive (13)C-breath test to examine phenylalanine metabolism in children with phenylketonuria. Mol Genet Metab. 2015; 115(2-3): 78-83[DOI][PubMed]
  • 6. Lu AY. Liver microsomal drug-metabolizing enzyme system: functional components and their properties. Fed Proc. 1976; 35(13): 2460-3[PubMed]
  • 7. Afolabi P, Wright M, Wootton SA, Jackson AA. Clinical utility of 13C-liver-function breath tests for assessment of hepatic function. Dig Dis Sci. 2013; 58(1): 33-41[DOI][PubMed]
  • 8. Ilan Y. Review article: the assessment of liver function using breath tests. Aliment Pharmacol Ther. 2007; 26(10): 1293-302[DOI][PubMed]
  • 9. Pijls KE, de Vries H, Nikkessen S, Bast A, Wodzig WK, Koek GH. Critical appraisal of 13C breath tests for microsomal liver function: aminopyrine revisited. Liver Int. 2014; 34(4): 487-94[DOI][PubMed]
  • 10. Goetze O, Selzner N, Fruehauf H, Fried M, Gerlach T, Mullhaupt B. 13C-methacetin breath test as a quantitative liver function test in patients with chronic hepatitis C infection: continuous automatic molecular correlation spectroscopy compared to isotopic ratio mass spectrometry. Aliment Pharmacol Ther. 2007; 26(2): 305-11[DOI][PubMed]
  • 11. Portincasa P, Grattagliano I, Lauterburg BH, Palmieri VO, Palasciano G, Stellaard F. Liver breath tests non-invasively predict higher stages of non-alcoholic steatohepatitis. Clin Sci (Lond). 2006; 111(2): 135-43[DOI][PubMed]
  • 12. Lalazar G, Pappo O, Hershcovici T, Hadjaj T, Shubi M, Ohana H, et al. A continuous 13C methacetin breath test for noninvasive assessment of intrahepatic inflammation and fibrosis in patients with chronic HCV infection and normal ALT. J Viral Hepat. 2008; 15(10): 716-28[DOI][PubMed]
  • 13. Dinesen L, Caspary WF, Chapman RW, Dietrich CF, Sarrazin C, Braden B. 13C-methacetin-breath test compared to also noninvasive biochemical blood tests in predicting hepatic fibrosis and cirrhosis in chronic hepatitis C. Dig Liver Dis. 2008; 40(9): 743-8[DOI][PubMed]
  • 14. Vranova J, Hendrichova M, Kolarova H, Kratka K, Rosina J, Horak J. (1)(3)C-methacetin breath test in the evaluation of disease severity in patients with liver cirrhosis. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2013; 157(4): 392-400[DOI][PubMed]
  • 15. Gizewska M, MacDonald A, Belanger-Quintana A, Burlina A, Cleary M, Coskun T, et al. Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results. Eur J Pediatr. 2016; 175(2): 261-72[DOI][PubMed]
  • 16. Bik-Multanowski M, Kaluzny L, Mozrzymas R, Oltarzewski M, Starostecka E, Lange A, et al. Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness. Acta Biochim Pol. 2013; 60(4): 613-6[PubMed]
  • 17. van Spronsen FJ, van Wegberg AMJ, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, et al. Issues with European guidelines for phenylketonuria – Authors' reply. Lancet Diabet Endocrinol. 2017; 5(9): 683-4[DOI]
  • 18. Boger WP, McClelland J, Gavin JJP. Measurement of multiple parameters of liver function. Am J Clin Nutr. 1967; (5): 446-51
  • 19. Jonderko K, Kasicka-Jonderko A, Kaminska M, Blonska-Fajfrowska B. A systematic study of a neutral meal suitable for subjects undergoing 13CO2 breath tests. Med Sci Monit. 2008; 14(10)-6[PubMed]
  • 20. Ciccocioppo R, Candelli M, Di Francesco D, Ciocca F, Taglieri G, Armuzzi A, et al. Study of liver function in healthy elderly subjects using the 13C-methacetin breath test. Aliment Pharmacol Ther. 2003; 17(2): 271-7[PubMed]
  • 21. Hakooz N, Hamdan I. Effects of dietary broccoli on human in vivo caffeine metabolism: a pilot study on a group of Jordanian volunteers. Curr Drug Metab. 2007; 8(1): 9-15[PubMed]
  • 22. Lake BG, Tredger JM, Renwick AB, Barton PT, Price RJ. 3,3'-Diindolylmethane induces CYP1A2 in cultured precision-cut human liver slices. Xenobiotica. 1998; 28(8): 803-11[DOI][PubMed]
  • 23. Ramati E, Israel A, Tal K, Petz-Sinuani N, Sela BA, Idan G, et al. [Low ALT activity amongst patients hospitalized in internal medicine wards is a widespread phenomenon associated with low vitamin B6 levels in their blood]. Harefuah. 2015; 154(2): 89-93[PubMed]
  • 24. Hvas AM, Nexo E, Nielsen JB. Vitamin B12 and vitamin B6 supplementation is needed among adults with phenylketonuria (PKU). J Inherit Metab Dis. 2006; 29(1): 47-53[DOI][PubMed]

Featured Image:

Creative Commons License Except where otherwise noted, this work is licensed under Creative Commons Attribution Non Commercial 4.0 International License .

Search Relations:



Create Citiation Alert
via Google Reader

Readers' Comments