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Journal of Inherited Metabolic Disease

, Volume 12, Issue 1, pp 80–85 | Cite as

Trimethylaminuria: The detection of carriers using a trimethylamine load test

  • M. Al-Waiz
  • R. Ayesh
  • S. C. Mitchell
  • J. R. Idle
  • R. L. Smith
Article

Summary

A method potentially of value for investigating putative heterozygotes or carriers of trimethylaminuria by using a single oral dose of trimethylamine (TMA) is described. For healthy volunteers under normal dietary condition and following oral challenge with 300 mg and 600 mg TMA-base, over 90% of the urinary TMA was excreted in the form of TMA (93.6 ± 1.6%). However, at a dose level of 900 mg TMA-base, there was clear evidence of saturation of theN-oxidation reaction as urinary TMA excretion declined to 77.2% (range 74.8–78.9) of the total dose of TMA. By contrast, in pedigree studies based upon propositi with trimethylaminuria, several parents were identified who showed clear evidence of saturation of theN-oxidation of TMA at the 600 mg TMA-base dose level, but not at 300 mg TMA-base or under normal dietary condition. In these individuals, the proportion of urinary TMA as trimethylamineN-oxide (TMAO) declined to (77.3 ± 1.7%). Accordingly we propose that the oral administration of 600 mg TMA-base and the analysis of the following 0–8-h urine collection may be useful for the investigation of possible carriers of trimethylaminuria.

Keywords

Public Health Internal Medicine Healthy Volunteer Oral Administration Metabolic Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© SSIEM and Kluwer Academic Publishers 1989

Authors and Affiliations

  • M. Al-Waiz
    • 1
    • 2
  • R. Ayesh
    • 1
  • S. C. Mitchell
    • 1
  • J. R. Idle
    • 1
  • R. L. Smith
    • 1
  1. 1.Department of PharmacologySt. Mary's Hospital, Medical SchoolLondon
  2. 2.Department of PharmacologyThe Medical School, Arabian Gulf UniversityBahrain

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