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Monday, July 7, 2008

1997 paper : Trimethylaminuria associated with seizures and behavioural disturbance: a case report

This anecdotal case study medical paper from 1997 includes 2 names who are well-known in FMO3 research in the UK (Mitchell, Smith). FMO3 is involved in the detoxication/activation of many substances (both internal and absorbed), and in this case they seem to be suggesting the seizures and psychiatric disturbance were secondarily related to his TMAU symptom. Only the abstract is available for free.

McConnell HW, Mitchell SC, Smith RL, Brewster M.

Centre for Epilepsy, Maudsley Hospital, London, UK.

A 16-year-old left-handed male is presented with a history of seizures associated with a fish-like odour and behavioural disturbances thought to be related to trimethylaminuria. His seizures were complex-partial (cursive) seizures and started at the age of 18 months. They occurred in the context of discrete episodes several times per year. The episodes would start with a fish-like odour, followed by seizures occurring in clusters and behavioural disturbance consisting of agitation, mixed affective symptoms, auditory hallucinations and delusions. A urinary assay of trimethylamine (TMA) was elevated, confirming the diagnosis of trimethylaminuria in this patient...

http://www.ncbi.nlm.nih.gov/pubmed/9304724

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