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Abstract

This recessively inherited condition causes accumulation of trimethylamine (TMA) in body fluids. Its incidence is not known; while marked cases appear to be quite rare, milder cases may be more frequent. TMA is formed in the gut by bacterial metabolism from dietary precursors such as lecithin and choline.

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References

  1. Eugene, M. (1998) [Diagnosis of “fish odor syndrome” by urine nuclear magnetic resonance proton spectrometry]. Ann Dermatol Venereol 125, 210–212.

    PubMed  CAS  Google Scholar 

  2. Ayesh, R., Mitchell, S. C, Zhang, A. et al. (1993) The fish odour syndrome: biochemical, familial, and clinical aspects. BMJ 307, 655–657.

    Article  PubMed  CAS  Google Scholar 

  3. Dolphin, C. T., Janmohamed, A., Smith, R. L. et al. (1997) Missense mutation in flavin-containing mono-oxygenase 3 gene, FM03, underlies fish-odour syndrome. Nat Genet 17, 491–494.

    Article  PubMed  CAS  Google Scholar 

  4. Basarab, T., Ashton, G. H., Menage, H. P. et al. (1999) Sequence variations in the flavin-containing mono-oxygenase 3 gene (FM03) in fish odour syndrome. Br J Dermatol 140, 164–167.

    Article  PubMed  CAS  Google Scholar 

  5. Treacy, E. P., Akerman, B. R., Chow, L. M. et al. (1998) Mutations of the flavin-containing monooxygenase gene (FM03) cause trimethylaminuria, a defect in detoxication. Hum Mol Genet 7, 839–845.

    Article  PubMed  CAS  Google Scholar 

  6. 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 

  7. Danks, D. M., Hammond, J., Schlesinger, P. et al. (1976) Trimethylaminuria: diet does not always control the fishy odor. N Engl J Med 295, 962.

    PubMed  CAS  Google Scholar 

  8. Mayatepek, E., Kohlmuller, D. (1998) Transient trimethylaminuria in childhood. Acta Paediatr 87, 1205–1207.

    Article  PubMed  CAS  Google Scholar 

  9. Mitchell, S. C. (1996) The fish-odor syndrome. Perspect Biol Med 39, 514–526.

    PubMed  CAS  Google Scholar 

  10. Allen, R. H., Stabler, S. P., Lindenbaum, J. (1993) Serum betaine, N,N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42, 1448–1460.

    Article  PubMed  CAS  Google Scholar 

  11. Binzak, B. A., Wevers, R. A., Moolenaar, S. H. 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 

  12. Moolenaar, S. H., Poggi-Bach, J., Engelke, U. F. 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 

  13. Laryea, M. D., Steinhagen, R, Pawliczek, S. et al. (1998) Simple method for the routine determination of betaine and N,N-dimethylglycine in blood and urine. Clin Chem 44, 1937–1941.

    PubMed  CAS  Google Scholar 

  14. Whyte, M. P. (2001) Hypophosphatasia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 8th ed. Volume IV. New York: McGraw-Hill, p 5313–5329.

    Google Scholar 

  15. Weiss, M. J., Cole, D. E., Ray, K. et al. (1988) A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85, 7666–7669.

    Article  PubMed  CAS  Google Scholar 

  16. Zurutuza, L., Muller, E, Gibrat, J. F. et al. (1999) Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8, 1039–1046.

    Article  PubMed  CAS  Google Scholar 

  17. Muller, H. L., Yamazaki, M., Michigami, T. et al. (2000) Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 85, 743–747.

    Article  PubMed  CAS  Google Scholar 

  18. Odaib, A. A., Shneider, B. L., Bennett, M. J. et al. (1998) A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med 339, 1752–7155.

    Article  PubMed  CAS  Google Scholar 

  19. Nozaki, S., Tanaka, T., Yamashita, S. et al. (1999) CD36 mediates long-chain fatty acid transport in human myocardium: complete myocardial accumulation defect of radiolabeled long-chain fatty acid analog in subjects with CD36 deficiency. Mol Cell Biochem 192, 129–135.

    Article  PubMed  CAS  Google Scholar 

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© 2003 Springer-Verlag Berlin Heidelberg

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Superti-Furga, A. (2003). Other Metabolic Disorders. In: Blau, N., Duran, M., Blaskovics, M.E., Gibson, K.M. (eds) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55878-8_41

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  • DOI: https://doi.org/10.1007/978-3-642-55878-8_41

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-62709-5

  • Online ISBN: 978-3-642-55878-8

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