KEGG   DISEASE: Trimethylaminuria (TMAU)Help
H01234                      Disease                                

Trimethylaminuria (TMAU);
Fish-odor syndrome
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.
Inherited metabolic disease
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01234  Trimethylaminuria (TMAU)
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E88  Other metabolic disorders
    H01234  Trimethylaminuria (TMAU)
BRITE hierarchy
hsa00982  Drug metabolism - cytochrome P450
FMO3 [HSA:2328] [KO:K00485]
Other DBs
ICD-10: E88.8
MeSH: C536561
OMIM: 602079
PMID:21276117 (description, gene)
Christodoulou J
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.
J Paediatr Child Health 48:E153-5 (2012)
PMID:22126753 (description, gene)
Shephard EA, Treacy EP, Phillips IR
Clinical utility gene card for: trimethylaminuria.
Eur J Hum Genet 20:ejhg2011214 (2012)
Fraser-Andrews EA, Manning NJ, Ashton GH, Eldridge P, McGrath J, Menage Hdu P
Fish odour syndrome with features of both primary and secondary trimethylaminuria.
Clin Exp Dermatol 28:203-5 (2003)

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