The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

The estimated carrier frequency of FMO3 pathogenic variants in a British Caucasian population is 0.5% to 1% although there may be significant variation in carrier status in different ethnic groups. 4 , 14 To date, the genetic profile of the Irish individuals affected with TMAU and the severity of their clinical expression has not been studied.

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