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Blog Archive

Monday, August 11, 2008

1989 Trimethylaminuria Pubmed paper: the detection of carriers using a trimethylamine load test.

1989: http://www.ncbi.nlm.nih.gov/pubmed/2501587
A method potentially of value for investigating putative heterozygotes or carriers of trimethylaminuria by using a single oral dose of trimethylamine (TMA) is described.

This paper from nearly 20 years ago involves 2 well known British experts; Mitchell and Smith. They devised a TMAU test for 'carriers', and what they describe as 'putative heterozygotes'. They are making the carrier urine test a straight 'trimethylamine' challenge test, using TMA at doses of 300mg (for suspected classic TMAU cases), 600mg (they set this as the carrier test), and 900mg (they expect most people to fail this amount).

They found that carriers were around the 77.3% mark with a 600mg TMA capsule, and set this as the phenotype 'carrier' test (this was before the DNA test).


If someone fails the choline-challenge urine test but still suspects they have TMAU, an option could be to try the TMA-capsule carrier test, since this is a straight test of how the enzyme copes with a pure TMA load. The choline test relies on the bacteria to produce the TMA. This would only seem worth considering if not enough TMA/TMAO was produced in a choline challenge test, since if there was enough TMA/TMAO present in the urine, the enzyme got a good 'workout'.

al-Waiz M, Ayesh R, Mitchell SC, Idle JR, Smith RL.

Department of Pharmacology, St. Mary's Hospital, Medical School, London.

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 the N-oxidation reaction as urinary TMA excretion declined to 77.2% (range 74.8-78.9) of the total dose of TMA...

http://www.ncbi.nlm.nih.gov/pubmed/2501587

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