Trimethylaminuria: the detection of carriers using a trimethylamine load test

Journal of Inherited Metabolic Disease
M Al-WaizR L Smith

Abstract

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. By contrast, in pedigree studies based upon propositi with trimethylaminuria, several parents were identified who showed clear evidence of saturation of the N-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 trimethylamine N-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.

References

Apr 1, 1977·The British Journal of Dermatology·R MarksP J Hartop
Mar 1, 1988·Clinical Science·M Al-WaizR L Smith
May 1, 1987·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·M Al-WaizR L Smith
Nov 1, 1987·Clinical Pharmacology and Therapeutics·M Al-WaizR L Smith
Oct 10, 1970·Lancet·J A HumbertW E Hathaway
Jan 1, 1980·Journal of Inherited Metabolic Disease·E SpellacyS K Goolamali
Sep 1, 1961·Archives of Biochemistry and Biophysics·P G PRENTISSS M LEVENSON
Apr 1, 1963·British Journal of Pharmacology and Chemotherapy·A M ASATOORM L SIMENHOFF
Dec 1, 1961·Gut·M D MilneL W Loughridge

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Citations

Jan 1, 1995·Journal of Inherited Metabolic Disease·A Q ZhangR Smith
Jan 1, 1990·Pharmacology & Therapeutics·R Ayesh, R L Smith
Feb 1, 1993·Pharmacology & Therapeutics·A K DalyJ R Idle
Dec 1, 2011·European Journal of Human Genetics : EJHG·Elizabeth A ShephardIan R Phillips
Apr 1, 1994·Journal of Toxicology and Environmental Health·B G SvenssonK Paulsson
Jun 1, 1991·British Journal of Clinical Pharmacology·R AyeshR L Smith
Feb 1, 1995·British Journal of Clinical Pharmacology·H F HadidiJ R Idle
Sep 11, 1993·BMJ : British Medical Journal·R AyeshR L Smith
Sep 1, 1996·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·A Q ZhangR L Smith
Feb 1, 1993·American Journal of Medical Genetics·H Chen, F Aiello
Oct 6, 2012·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·A Romero GarcíaE Galán Gómez
Aug 22, 2009·Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición·Teresa Montoya AlvarezGuadalupe Guijarro
Apr 1, 1994·Xenobiotica; the Fate of Foreign Compounds in Biological Systems·A Q ZhangR L Smith
Sep 15, 1999·Lancet·J ZschockeE Mayatepek
Oct 21, 2016·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Diede FennemaElizabeth A Shephard
Aug 26, 2003·Human Mutation·Diana HernandezIan R Phillips
Jul 1, 1995·Occupational and Environmental Medicine·T LundhS Skerfving
Oct 23, 2014·European Journal of Human Genetics : EJHG·Elizabeth A ShephardIan R Phillips
Jul 20, 2002·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Wayne T Cornblath, Preston C Calvert
Apr 23, 2020·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Xun JiaZeneng Wang
May 6, 2003·The Journal of Nutrition·Steven H ZeiselJoanne M Holden
Mar 26, 2003·Clinical and Experimental Dermatology·E A Fraser-AndrewsH du P Menagé
Mar 18, 1999·Journal of Chromatography. B, Biomedical Sciences and Applications·G A MillsH Mughal
Nov 27, 2004·Journal of the American Dietetic Association·Marjorie G BusbySteven H Zeisel

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