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[Trimethylaminuria: fish-odor syndrome]

B A Sela1, H Trau, A Spira

  • 1Institute of Chemical Pathology, Chaim Sheba Medical Center, Tel Hashomer.

Harefuah
|February 1, 1993
PubMed
Summary
This summary is machine-generated.

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Fish-odor syndrome, or trimethylaminuria, causes a fishy body odor due to excessive trimethylamine (TMA) excretion. This rare metabolic disorder affects how the body processes dietary compounds.

Area of Science:

  • Biochemistry and Metabolic Disorders
  • Genetics and Rare Diseases

Background:

  • Fish-odor syndrome, known as trimethylaminuria, is a rare metabolic disorder characterized by the excessive excretion of trimethylamine (TMA).
  • Trimethylamine is a volatile tertiary amine responsible for a distinct fish-like odor, detectable in urine, breath, and sweat of affected individuals.

Observation:

  • Normally, trimethylamine (TMA) is efficiently oxidized to its odorless N-oxide derivative in the human body.
  • TMA originates from dietary sources, including choline degradation by gut bacteria (e.g., from egg yolk, liver) and reduction of TMA-oxide in marine fish.

Findings:

  • The study presents two sisters with a tentative diagnosis of trimethylaminuria, highlighting a potential familial link.
  • Massive urinary excretion of trimethylamine (TMA) is the hallmark of this metabolic defect.

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Implications:

  • Understanding the metabolic defect in trimethylaminuria is crucial for diagnosis and management.
  • Further research into the genetic and biochemical basis of this disorder can aid in identifying affected individuals and developing targeted therapies.