[Primary trimethylaminuria: the fish odor syndrome]

Endocrinol Nutr. 2009 Jun-Jul;56(6):337-40. doi: 10.1016/S1575-0922(09)71948-5.
[Article in Spanish]

Abstract

Primary trimethylaminuria, or fish odor syndrome, is a congenital metabolic disorder characterized by a failure in the hepatic trimethylamine (TMA) oxidation route to trimethylamine N-oxide (TMANO). TMA is mostly derived from dietary precursors such as choline, carnitine and TMANO. The presence of abnormal amounts of TMA in the urine, sweat, exhaled air and other body secretions confers a very unpleasant body odor resembling that of decaying fish. As a consequence, patients can suffer from serious psychosocial sequelae. We present a case of primary trimethylaminuria with the aim of raising awareness about this condition.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Metabolism, Inborn Errors / diagnosis
  • Metabolism, Inborn Errors / therapy
  • Metabolism, Inborn Errors / urine*
  • Methylamines / urine*
  • Odorants

Substances

  • Methylamines
  • trimethylamine