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Severe primary trimethylaminuria

Disease definition

A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals. While there are no additional signs and symptoms, the condition can have profound psychosocial consequences.

ORPHA:468726

Classification level: Disorder
  • Synonym(s):
    • TMAU
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Childhood
  • ICD-10: E88.8
  • OMIM: 602079
  • UMLS: C5575503
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

Detailed information

Disease review articles

Genetic Testing

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.