Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub‐Saharan Africa

Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub‐Saharan Africa

ABSTRACT Primary trimethylaminuria (TMAU) is characterized by systemic accumulation of trimethylamine (TMA) due to the deficient activity of flavin‐containing monooxygenase 3 (FMO3). The disorder does not have detrimental pathophysiological consequences, but patients develop psychological symptoms d...

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Bibliographic Details
Main Authors: M. Dercksen, M. Perumal, E. Davoren, D. R. Reed, C. Murry‐Maritz, R. van derSluis, S. Mason
Format: Article
Language:English
Published: Wiley 2025-03-01
Series:JIMD Reports
Online Access:https://doi.org/10.1002/jmd2.70005
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