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trimethylaminuria
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trimethylaminuria

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Also known as TMAU, fish-odor syndrome, TRIMETHYLAMINURIA; TMAU, Fish-Odor Syndrome, fish odor syndrome

Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert the rotting fish smelling chemical trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO), through a process called N-oxidation.

Key facts

Medical condition.name
Trimethylaminuria
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Trimethylamine chemical structure.png
Medical condition.synonyms
Primary trimethylaminuria
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Trimethylamine
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via Wikipedia infobox

~18 min read

Article

11 sections
Contents
  • Symptoms and signs
  • Genetics
  • Metabolic pathway
  • Diagnosis
  • Treatment
  • Secondary trimethylaminuria
  • TMAU2 and gut dysbiosis
  • History
  • Society and culture
  • References
  • External links

Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert the rotting fish smelling chemical trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO), through a process called N-oxidation.

Trimethylamine can temprorarily build up in the bloodstream and is released in the person's urine, sweat, and breath, giving off a rotten fish odor. Primary trimethylaminuria is caused by genetic mutations that affect the FMO3 function of the liver. Symptoms matching TMAU can also occur when there is no genetic cause, yet excessive TMA is excreted - this has been described as secondary trimethylaminuria (TMAU2).

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