Skip to main content
Log in

Trimethylaminuria

  • Published:
Journal of Inherited Metabolic Disease

Abstract

We describe the case of an otherwise healthy 7-year-old girl whose mother noticed that she intermittently smelt of fish. This was due to the intermittent excretion of trimethylamine which could be precipitated by choline ingestion and by eating fish. Excluding eggs, liver and salt-water fish from the diet relieved the symptom. After a standard 15g choline load, the child's father, but not her mother, excreted amounts of trimethylamine which were intermediate between those excreted by the patient and normal control subjects.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Asatoor, A. M. and Simenhoff, M. L. The origin of urinary dimethylamine.Biochim. Biophys. Acta 111 (1965) 384

    PubMed  CAS  Google Scholar 

  • Baldwin, E.An Introduction to Comparative Biochemistry. Cambridge University Press, 1949, p. 47

  • Calvert, G. D. Trimethylaminuria and inherited Noonan's syndrome.Lancet 1 (1973) 320

    Article  PubMed  CAS  Google Scholar 

  • Draser, B. S. and Hill, M. J.Human Intestinal Flora, Academic Press, London, 1974, pp. 82–84

    Google Scholar 

  • Ersser, R. S. Screening for amino acid disorders using prepared thin layers of cellulose on aluminium foil.J. Med. Lab. Technol. 27 (1970) 142

    PubMed  CAS  Google Scholar 

  • Finar, I. L.Organic Chemistry Volume One: The Fundamental Principles, Longmans Green, London, 1963, p. 313

    Google Scholar 

  • Higgins, T., Chaykin, S., Hammond, S. and Humbert, J. R. Trimethylamine N-oxide synthesis: a human variant.Biochem. Med. 6 (1972) 392

    Article  PubMed  CAS  Google Scholar 

  • Humbert, J. R., Hammond, K. B., Hathaway, W. E., Marcoux, J. G. and O'Brien, D. Trimethylaminuria: the fish odour syndrome.Lancet 2 (1970) 770

    Article  PubMed  CAS  Google Scholar 

  • Keay, J. N. and Hardy, R. The separation of aliphatic amines in dilute aqueous solution by gas chromatography and application of this technique to the quantitative analysis of tri- and dimethylamine in fish.J. Sci. Food Agric. 23 (1972) 9

    Article  CAS  Google Scholar 

  • Lee, C. W. G., Yu, J. S., Turner, B. B. and Murray, K. E. Trimethylaminuria: fishy odours in children.N. Engl. J. Med. 295 (1976) 937

    PubMed  CAS  Google Scholar 

  • Lintzel, W. Trimethylamminumbasen im menschlen Haut.Biochem. Z. 273 (1934) 243

    CAS  Google Scholar 

  • Marks, R., Greaves, M. W., Danks, D. and Plummer, V. Trimethylaminuria or fish odour syndrome in a child.Br. J. Dermatol. 95 (1976) Suppl. 14, 11

    PubMed  Google Scholar 

  • Marks, R., Greaves, M. W., Prottey, C. and Hartop, P. J. Trimethylaminuria: the use of choline as an aid to diagnosis.Br. J. Dermatol. 96 (1977) 399

    Article  PubMed  CAS  Google Scholar 

  • Müller, M. and Immendorfer, I. Ein Beitrag zum Verhalten des Trimethylamins und des Trimethylaminoxyds im Stoffwechsel.Z. Physiol. Chem. 275 (1942) 267

    Google Scholar 

  • Noonan, J. A. and Ehmke, D. A. Associated noncardiac malformations in children with congenital heart disease.J. Paediatr. 63 (1963) 468

    Google Scholar 

  • Norris, E. R. and Benoit, O. J. Studies on trimethylamine oxide: III. Trimethylamine oxide excretion by the rat.J. Biol. Chem. 158 (1945) 443

    CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Spellacy, E., Watts, R.W.E. & Goolamali, S.K. Trimethylaminuria. J Inherit Metab Dis 2, 85–88 (1979). https://doi.org/10.1007/BF01805663

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF01805663

Keywords

Navigation