Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
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- 作者：Yiran Guo ; Liang-Dar Hwang ; Jiankang Li ; Jason Eades ; Chung Wen Yu…
- 刊名：BMC Medical Genetics
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：18
- 期：1
- 全文大小：571KB
- 刊物主题：Human Genetics; Cytogenetics; Gene Function;
- 出版者：BioMed Central
- ISSN：1471-2350
- 卷排序：18
文摘
BackgroundTrimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU.