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Kim JH, Cho SM, Chae JH. A compound heterozygous mutation in the . Korean J Pediatr. 2017;60(3):94-97doi: 10.3345/kjp.2017.60.3.94.
Kim, J. H., Cho, S. M., & Chae, J. H. (2017). A compound heterozygous mutation in the . Korean journal of pediatrics, 60(3), 94-97. https://doi.org/10.3345/kjp.2017.60.3.94
Kim, Ji Hyun, et al. "A compound heterozygous mutation in the ." Korean journal of pediatrics vol. 60,3 (2017): 94-97. doi: https://doi.org/10.3345/kjp.2017.60.3.94
Kim JH, Cho SM, Chae JH. A compound heterozygous mutation in the . Korean J Pediatr. 2017 Mar;60(3):94-97. doi: 10.3345/kjp.2017.60.3.94. Epub 2017 Mar 27. PMID: 28392825; PMCID: PMC5383638.
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Korean J Pediatr. 2017 Mar;60(3):94-97. doi: 10.3345/kjp.2017.60.3.94. Epub 2017 Mar 27.

A compound heterozygous mutation in the .

Korean journal of pediatrics

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

Affiliations

  1. Department of Pediatrics, Dongguk University Ilsan Hospital, Goyang, Korea.
  2. Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.

PMID: 28392825 PMCID: PMC5383638 DOI: 10.3345/kjp.2017.60.3.94

Abstract

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 (

Keywords: FMO3; Fish odor syndrome; Mutation; Trimethylaminuria

Conflict of interest statement

Conflict of interest: No potential conflict of interest relevant to this article was reported.

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