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Description
FMO3 gene mutations cause trimethylaminuria (TMAU): Trimethylaminuria is a metabolic disorder caused by high levels of trimethylamine, which has a distinctive odor
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Methods Here we evaluated ten subjects by (1) odor evaluation by a trained sensory panel, (2) analysis of their urine concentration of TMA relative to TMAO before and after choline ingestion, and (3) whole exome sequencing as well as subsequent variant analysis of all ten samples to investigate the genetics of TMAU
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