Trimethylaminuria (TMAU)

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OMIM 57 602079 Orphanet 59 ORPHA468726 ICD10 via Orphanet 34 E88.8 MedGen 42 C0342739

KEGG 37 H01234 SNOMED-CT via HPO 69 258211005 21061000119107 35489007 78667006 24184005 38341003 3424008 86651002 16294009 165517008 165397008 271737000 237959005 128601007 699014000 more UMLS 73 C0342739

NIH Rare Diseases : ⁵³ Trimethylaminuria is a metabolic disorder that occurs when the body is unable to break down certain nitrogen-containing compounds such as trimethylamine. Trimethylamine, which has a fishy odor, is produced in the intestines when certain types of food (i.e. eggs, liver, legumes, fish and some vegetables) are digested. As trimethylamine begins to accumulate in the body, it is released in the sweat, urine, reproductive fluids, and breath. This leads to the characteristic odor of trimethylaminuria. Affected individuals do not have other health problems related to the condition, but the unpleasant odor can result in social and psychological problems. Trimethylaminuria seems to be more common in women. Researchers think this may be due to higher hormone levels aggravating symptoms of the disorder. Trimethylaminuria is often caused by changes (mutations) in the FMO3 gene and is inherited in an autosomal recessive manner. Although there is no cure, trimethylaminuria can often be managed by reducing the amount of trimethylamine in the body. For example, affected people can modify their diet to avoid foods with high levels of trimethylamine.

MalaCards based summary : Trimethylaminuria, also known as tmau, is related to primary trimethylaminuria and depression. An important gene associated with Trimethylaminuria is FMO3 (Flavin Containing Monooxygenase 3), and among its related pathways/superpathways are Drug metabolism - cytochrome P450 and Cytochrome P450 - arranged by substrate type. Affiliated tissues include liver and testes, and related phenotypes are depressivity and hypertension

Genetics Home Reference : ²⁵ 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.

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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor... more...

Clinical features from OMIM:

602079

Search Clinical Trials , NIH Clinical Center for Trimethylaminuria

Search GEO for disease gene expression data for Trimethylaminuria.