Published on
Dec 31, 2024
First Report from Saudi Arabia of Trimethylaminuria Caused by a Premature Stop Codon Mutation in the FMO3 Gene
Introduction Trimethylaminuria (TMAU) is a rare recessive genetic disorder associated with mutations in the FMO3 gene that cause loss of function in the FMO3 protein. This enzyme is responsible for conversion of trimethylamine (TMA) to trimethylamine N‐ …
Source:
Dove Medical Press
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Neutral
