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Article

Novel variants in outer protein surface of flavin-containing monooxygenase 3 found in an Argentinian case with impaired capacity for trimethylamine N-oxygenation.

Drug metabolism and pharmacokinetics - 1 Aug 2020

Dionisio Leonardo, Shimizu Makiko, Stupniki Sofia, Oyama Saki, Aztiria Eugenio, Alda Maximiliano, Yamazaki Hiroshi, Spitzmaul Guillermo

Abstract excerpt

Flavin-containing monooxygenase 3 (FMO3) is a polymorphic drug metabolizing enzyme associated with the genetic disorder trimethylaminuria. We phenotyped a white Argentinian 11-year-old girl by medical sensory evaluation. After pedigree analysis with her brother and parents, this proband showed to harbor a new allele p.(P73L; E158K; E308G) FMO3 in trans configuration with the second new one p.(F140S) FMO3....

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PMID: 32653296
DOI: 10.1016/j.dmpk.2020.05.003

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