Trimethylaminuria (TMAU)

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Disease Ontology 12 DOID:0080361 OMIM 58 602079 KEGG 38 H01234 ICD10 via Orphanet 35 E88.8

Orphanet 60 ORPHA468726 MedGen 43 C0342739 SNOMED-CT via HPO 70 128601007 16294009 165397008 165517008 21061000119107 237959005 24184005 258211005 271737000 3424008 35489007 38341003 699014000 78667006 86651002 more UMLS 74 C0342739

NIH Rare Diseases : ⁵⁴ 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 testes, 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.

Genetics Home Reference : ²⁶ 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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ 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.