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Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency

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Abstract

These disorders cause an unpleasant fish-like body odour. The problems are psychosocial and management centres on attempting to minimise the odour.

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References

  1. Al-Waiz M, Ayesh R, Mitchell SC et al. (1987) A genetic polymorphism of the N-oxidation of trimethylamine in humans. Clin Pharmacol Ther 42:588–594

    Article  PubMed  CAS  Google Scholar 

  2. Mitchell SC, Smith RL (2001) Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos 29:517–521

    PubMed  CAS  Google Scholar 

  3. Phillips IR, Shephard EA (2007). Trimethylaminuria. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Available at www.genetests.org, last revision March 18 2008

  4. Ziegler DM (1990) Flavin-containing monooxygenases: enzymes adapted for multisubstrate specificity (review). Trends Pharmacol Sci 11: 321–324

    Article  PubMed  CAS  Google Scholar 

  5. Treacy EP, Akerman BR, Chow LML et al. (1998) Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Hum Mol Genet 7: 839–845

    Article  PubMed  CAS  Google Scholar 

  6. Cashman JR, Zhang J (2002) Interindividual differences of human flavin-containing monooxygenase 3: genetic polymorphisms and functional variation. Drug Metab Dispos 30: 1043–1052

    Article  PubMed  CAS  Google Scholar 

  7. Kreuger SK, Williams DE (2005) Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism. Pharmacol Ther 106:357–387

    Article  Google Scholar 

  8. Shimizu M, Cashman JR, Yamazaki H (2007) Transient trimethylaminuria related to menstruation. BMC Med Genet 8: 2

    Article  PubMed  Google Scholar 

  9. Koukouritaka SB, Simpson P, Yeung CK et al. (2002) Human hepatic flavin-containing monooxygenase 1 (FMO1) and 3 (FMO3) developmental expression. Pediatr Res 51: 236–243

    Article  Google Scholar 

  10. Ayesh R, Mitchell SC, Zhang A, Smith RL (1993) The fish odour syndrome: biochemical, familial, and clinical aspects. BMJ 307:655–657

    Article  PubMed  CAS  Google Scholar 

  11. Lee CWG, Yu JS, Turner BB, Murray KE (1976) Trimethylaminuria: fishy odours in children. N Engl J Med 295:937–938

    Article  PubMed  CAS  Google Scholar 

  12. Pike MG, King GS, Pettit BR et al. (1988) Lactulose in trimethylaminuria, the fish-odour syndrome. Helv Paediatr Acta 43:345–348

    Google Scholar 

  13. Al-Waiz M, Ayesh R, Mitchell SC et al. (1989) Trimethylaminuria: the detection of carriers using a trimethylamine load test. J Inherit Metab Dis 12:80–85

    Article  PubMed  CAS  Google Scholar 

  14. Shephard EA, Dolphin CT, Fox MF et al. (1993) Localization of genes encoding three distinct flavin-containing monooxygenases to human chromosome1q, Genomics 16:85–89

    Article  PubMed  CAS  Google Scholar 

  15. Yeung CK, Adman ET, Rettie AE (2007) Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. Arch Biochem Biophys 474:251–259

    Article  Google Scholar 

  16. Zschocke J, Kohlmueller D, Quak E et al. (1999) Mild trimethylaminuria caused by common variants in FMO3 gene. Lancet 354:834–835

    PubMed  CAS  Google Scholar 

  17. Hernandez D, Addou S, Lee D et al. (2003) Trimethylaminuria and a human FMO3 mutation database. Hum Mutat 22:209–213

    Article  PubMed  CAS  Google Scholar 

  18. Fraser-Andrews EA, Manning NJ, Ashton GH et al. (2003) Fish odour syndrome with features of both primary and secondary trimethylaminuria. Clin Exp Dermatol 28:203–205

    Article  PubMed  CAS  Google Scholar 

  19. Chalmers RA, Bain MD, Michelakakis H et al. (2006) Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. J Inherit Metab Dis 29: 162–172

    Article  PubMed  CAS  Google Scholar 

  20. Busby MG, Fischer L, da Costa KA et al. (2004) Choline-betainedefined diets for use in clinical research and for management of trimethylaminuria. J Am Diet Assoc 104:1836–1845

    Article  PubMed  Google Scholar 

  21. Yamazaki H, Fujieda M, Togashi M et al. (2004) Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. Life Sci 74:2739–2747

    Article  PubMed  CAS  Google Scholar 

  22. Moolenaar SH, Poggi-Bach J, Engelke UFH et al. (1999) Defect in dimethylglycine dehydrogenase, a new inborn error of metabolism: NMR spectroscopy study. Clin Chem 45:459–464

    PubMed  CAS  Google Scholar 

  23. Binzak BA, Vockley JG, Jenkins RB, Vockley J (2000) Structure and analysis of the human dimethylglycine dehydrogenase gene. Mol Genet Metab 69:181–187

    Article  PubMed  CAS  Google Scholar 

  24. Binzak BA, Wevers RA, Moolenaar SH et al. (2001) Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet 68:839–847

    Article  PubMed  CAS  Google Scholar 

  25. McAndrews RP, Vockley J, Kim JJ (2008) Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R. J Inherit Metab Dis 31:761–768

    Article  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Chemical Pathology, Southampton General Hospital, Tremona Road, SO16 6YD, Southampton, UK

    Valerie Walker

  2. Laboratory of Genetic, Endocrine and Metabolic Diseases (830) Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, 9101, 6500, Nijmegen, HB, The Netherlands

    Ron A. Wevers

Authors
  1. Valerie Walker
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  2. Ron A. Wevers
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Editor information

Editors and Affiliations

  1. Department of Neurology Neurometabolic Unit, Hôpital Pitié Salpêtrière 47–83 Boulevard de l’Hôpital, Paris Cedex 13, 75651, Paris, France

    Jean-Marie Saudubray

  2. Laboratory of Physiological Chemistry de Duve Institute, University of Louvain Medical School, Avenue Hippocrate 75/39, 1200, Brussels, Belgium

    Georges van den Berghe

  3. Biochemical Genetics Unit Manchester Academic Health Science Centre, Central Manchester University Hospitals St Mary’s Hospital, Oxford Road, M13 9WL, Manchester, UK

    John H. Walter

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© 2012 Springer-Verlag Berlin Heidelberg

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Walker, V., Wevers, R.A. (2012). Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency. In: Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-15720-2_31

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  • DOI: https://doi.org/10.1007/978-3-642-15720-2_31

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-15719-6

  • Online ISBN: 978-3-642-15720-2

  • eBook Packages: MedicineMedicine (R0)

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