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Condition report · Metabolic

Trimethylaminuria

An inherited condition, sometimes called fish-odour syndrome, in which the body cannot break down trimethylamine, a strong-smelling compound produced from certain foods. It is not harmful to physical health but can have a large social impact.

A condition report looks for rare variants known to cause the conditions it covers.

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What your report covers

The condition we analyse

Autosomal recessive

Caused mainly by variants in FMO3, which can lead to a fishy body odour in sweat, breath and urine; common milder FMO3 variants may cause only mild or temporary symptoms.

What a diagnosis changes

Knowing allows dietary changes that limit choline- and trimethylamine-rich foods, and other measures such as acidic soaps, which can reduce odour.

Genes analysed

Also known as

fish malodor syndrome; fish odor syndrome; fish odour syndrome; fish-odor syndrome; stale fish syndrome; TMAU; TMAuria; trimethylaminuria (disease)

Includes 2 related subtypes ↓
  • secondary trimethylaminuria
  • severe primary trimethylaminuria
MONDO:0011182Orphanet 35056MedGen 83350

Other metabolic conditions

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