KEGG :
36
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.
MalaCards based summary :
Trimethylaminuria, also known as
tmau, is related to
primary trimethylaminuria and
noonan syndrome 1. An important gene associated with Trimethylaminuria is
FMO3 (Flavin Containing Dimethylaniline Monoxygenase 3), and among its related pathways/superpathways are
Drug metabolism - cytochrome P450 and
Cytochrome P450 - arranged by substrate type. Affiliated tissues include
liver and
brain, and related phenotypes are
depressivity and
hypertension
Disease Ontology :
12
An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has material basis in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24.
MedlinePlus Genetics :
43
Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotting fish, rotting eggs, garbage, or urine. As this compound builds up in the body, it causes affected people to give off a strong odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition.
GARD :
20
Trimethylaminuria causes the body to produce a fishy odor that is released in the sweat, urine, breath, and reproductive fluids. People with trimethylaminuria are unable to break down trimethylamine. Trimethylamine comes from specific chemicals (choline, carnitine, TMAO) found in certain foods. The excess trimethylamine builds up and is the source of the odor. There are no other physical symptoms from trimethylaminuria, but people with this condition may experience serious psychological and social distress. Trimethylaminuria is due to a FMO3 gene that is not working correctly. It is inherited in an autosomal recessive pattern. It is diagnosed based on the symptoms, clinical exam, urine analysis, and can be confirmed by genetic testing. Treatment for trimethylaminuria mainly includes diet modification, acidic soaps and lotions, and vitamin B12 supplements. Other treatment options include antibiotics, activated charcoal, and probiotics.
OMIM® :
57
Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996).
(602079) (Updated 05-Mar-2021)
UniProtKB/Swiss-Prot :
73
Trimethylaminuria: Inborn error of metabolism associated with an offensive body odor and caused by deficiency of FMO-mediated N-oxidation of amino- trimethylamine (TMA) derived from foodstuffs. Affected individuals excrete relatively large amounts of TMA in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine.
Wikipedia :
74
Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic...
more...
Inborn errors of metabolism 
