KEGG   DISEASE: H01234Help
Entry
H01234                      Disease                                

Name
Trimethylaminuria (TMAU);
Fish-odor syndrome
Description
Trimethylaminuria (TMAU), also known as fish odour syndrome, is a metabolic disorder. TMAU usually presents with a body odour resembling that of rotten or decaying fish, the result of excess excretion of trimethylamine (TMA) in the breath, sweat, urine, and reproductive fluids. Primary TMAU is most often caused by a functional defect of flavin mono-oxygenase 3 (FMO3), and the genetic disorder is inherited in an autosomal recessive manner as a consequence of mutations in the FMO3 gene. Secondary TMAU has been described in patients with severe liver disease (which is the major site of activity of the FMO3 enzyme) and chronic renal disease (as a consequence of bacterial overgrowth in the gut), and in patients treated with large doses of betaine or possibly L-carnitine. In addition, transient TMAU has been reported in a preterm infant who was fed with choline-rich food supplements and has been reported in some women just at the onset of menstruation.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Drug metabolism - cytochrome P450
Gene
FMO3 [HSA:2328] [KO:K00485]
Marker
(urine) Trimethylamine [CPD:C00565]
Trimethylamine N-oxide [CPD:C01104]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
PMID:21276117 (description, gene)
  Authors
Christodoulou J
  Title
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.
  Journal
J Paediatr Child Health 48:E153-5 (2012)
Reference
PMID:22126753 (description, gene)
  Authors
Shephard EA, Treacy EP, Phillips IR
  Title
Clinical utility gene card for: trimethylaminuria.
  Journal
Eur J Hum Genet 20 (2012)
Reference
  Authors
Fraser-Andrews EA, Manning NJ, Ashton GH, Eldridge P, McGrath J, Menage Hdu P
  Title
Fish odour syndrome with features of both primary and secondary trimethylaminuria.
  Journal
Clin Exp Dermatol 28:203-5 (2003)

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