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A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea

Ji Hyun Kim, Sung Min Cho, Jong-Hee Chae

Clin Exp Pediatr. 2017;60(3):94-97. Published online March 27, 2017

Crossref 4

Trimethylaminuria (TMAuria), known as “fish odor syndrome,” is a congenital metabolic disorder characterized by an odor resembling that of rotting fish. This odor is caused by the secretion of trimethylamine (TMA) in the breath, sweat, and body secretions and the excretion of TMA along with urine. TMAuria is an autosomal recessive disorder caused by mutations in flavin-containing monooxygenase 3 (FMO3)....

DOI: https://doi.org/10.3345/kjp.2017.60.3.94

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