MCID: TRM004
MIFTS: 43

Trimethylaminuria

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Trimethylaminuria

MalaCards integrated aliases for Trimethylaminuria:

Name: Trimethylaminuria 53 72 49 24 71 36 28 13 51 69
Tmau 53 49 24 71
Fish Malodor Syndrome 49 24
Stale Fish Syndrome 49 24
Fish-Odor Syndrome 53 71
Fish Odor Syndrome 49 24
Tmauria 49 24
Severe Primary Trimethylaminuria 55
Mesh; D008661 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
offensive fishy body odor


HPO:

31
trimethylaminuria:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Inborn errors of metabolism


Summaries for Trimethylaminuria

NIH Rare Diseases : 49 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. Last updated: 1/24/2017

MalaCards based summary : Trimethylaminuria, also known as tmau, is related to primary trimethylaminuria and prader-willi syndrome, and has symptoms including hypertension, splenomegaly and anemia. 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.

Genetics Home Reference : 24 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 : 53 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 : 71 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 : 72 Trimethylaminuria (TMAU; primary trimethylaminuria), also known as fish odor syndrome or fish malodor... more...

Related Diseases for Trimethylaminuria

Diseases in the Trimethylaminuria family:

Primary Trimethylaminuria

Diseases related to Trimethylaminuria via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 9, show less)
# Related Disease Score Top Affiliating Genes
1 primary trimethylaminuria 12.1
2 prader-willi syndrome 9.8
3 currarino syndrome 9.8
4 enterocolitis 9.8
5 autoinflammation with infantile enterocolitis 9.8
6 epilepsy 9.8
7 delusional disorder 9.8
8 homocystinuria 9.8
9 streptococcal group a invasive disease 9.8

Graphical network of the top 20 diseases related to Trimethylaminuria:



Diseases related to Trimethylaminuria

Symptoms & Phenotypes for Trimethylaminuria

Symptoms via clinical synopsis from OMIM:

53
Cardiovascular Heart:
tachycardia after eating cheese (in some patients)

Respiratory Lung:
pulmonary infections (in some patients)

Hematology:
anemia (in some patients)
neutropenia in some patients)

Cardiovascular Vascular:
hypertension, severe, after eating cheese (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
depression
suicidal
psychosocial problems in school

Laboratory Abnormalities:
trimethylaminuria
deficiency of fmo-mediated n-oxidation of amino-trimethylamine (tma) derived from foodstuffs
large amounts of tma in urine, sweat, and breath


Clinical features from OMIM:

602079

Human phenotypes related to Trimethylaminuria:

31 (showing 8, show less)
# Description HPO Frequency HPO Source Accession
1 hypertension 31 HP:0000822
2 splenomegaly 31 HP:0001744
3 anemia 31 HP:0001903
4 neutropenia 31 HP:0001875
5 recurrent pneumonia 31 HP:0006532
6 tachycardia 31 HP:0001649
7 trimethylaminuria 31 HP:0003614
8 depressivity 31 HP:0000716

Drugs & Therapeutics for Trimethylaminuria

Search Clinical Trials , NIH Clinical Center for Trimethylaminuria

Genetic Tests for Trimethylaminuria

Genetic tests related to Trimethylaminuria:

# Genetic test Affiliating Genes
1 Trimethylaminuria 28 FMO3

Anatomical Context for Trimethylaminuria

MalaCards organs/tissues related to Trimethylaminuria:

38
Liver, Testes

Publications for Trimethylaminuria

Articles related to Trimethylaminuria:

(showing 80, show less)
# Title Authors Year
1
Primary and transitory trimethylaminuria: A report of 2 cases. ( 28743400 )
2017
2
Trimethylaminuria. ( 27118741 )
2016
3
First case of Currarino Syndrome and Trimethylaminuria: two rare diseases for a complex clinical presentation. ( 27335202 )
2016
4
Analysis of six novel flavin-containing monooxygenase 3 (FMO3) gene variants found in a Japanese population suffering from trimethylaminuria. ( 28649550 )
2015
5
Clinical utility gene card for: Trimethylaminuria - update 2014. ( 25335494 )
2014
6
Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report. ( 25288227 )
2014
7
Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndrome. ( 23821320 )
2014
8
Fish odor syndrome: a case report of trimethylaminuria. ( 24456963 )
2014
9
FMO3 allelic variants in Sicilian and Sardinian populations: trimethylaminuria and absence of fish-like body odor. ( 23266626 )
2013
10
Delusional disorder, somatic type: olfactory reference syndrome in a patient with delusional trimethylaminuria. ( 23719328 )
2013
11
Relationships between flavin-containing monooxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. ( 24028545 )
2013
12
Archaebiotics: Proposed therapeutic use of archaea to prevent trimethylaminuria and cardiovascular disease. ( 24247281 )
2013
13
Trimethylaminuria (fish odor syndrome): genotype characterization among Portuguese patients. ( 23791655 )
2013
14
A Review of Trimethylaminuria: (Fish Odor Syndrome). ( 24307925 )
2013
15
Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 22819296 )
2012
16
Clinical utility gene card for: trimethylaminuria. ( 22126753 )
2012
17
Trimethylaminuria (fish malodour syndrome) in chronic renal failure. ( 23930066 )
2012
18
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder. ( 21276117 )
2012
19
Riboflavin-responsive trimethylaminuria in a patient with homocystinuria on betaine therapy. ( 23430919 )
2012
20
Trimethylaminuria: causes and diagnosis of a socially distressing condition. ( 21451776 )
2011
21
Epilepsy and trimethylaminuria: A new case report and literature review. ( 20970269 )
2011
22
Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. ( 21851918 )
2011
23
A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. ( 19577495 )
2009
24
Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. ( 19321370 )
2009
25
Bonitos with low content of malodorous trimethylamine as palliative care for self-reported Japanese trimethylaminuria subjects. ( 20045990 )
2009
26
Trimethylaminuria (fish malodour syndrome): a "benign" genetic condition with major psychosocial sequelae. ( 18928446 )
2008
27
Trimethylaminuria (fish-odor syndrome): a case report. ( 17224546 )
2007
28
Genetic polymorphism of the flavin-containing monooxygenase 3 (FMO3) associated with trimethylaminuria (fish odor syndrome): observations from Japanese patients. ( 17584019 )
2007
29
Transient trimethylaminuria related to menstruation. ( 17257434 )
2007
30
Functional characterization of genetic variants of human FMO3 associated with trimethylaminuria. ( 17531949 )
2007
31
Stop codon mutations in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population. ( 16996766 )
2007
32
Rapid screening assay of trimethylaminuria in urine with matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. ( 17510942 )
2007
33
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. ( 16601883 )
2006
34
A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene. ( 16600650 )
2006
35
Smelling like dead fish: a case of trimethylaminuria in an adolescent. ( 17041178 )
2006
36
Diagnosis of suspected trimethylaminuria by NMR spectroscopy. ( 15563884 )
2005
37
Trimethylaminuria (fish-odour syndrome) and oral malodour. ( 15752091 )
2005
38
Mild trimethylaminuria observed in a Japanese cohort with liver damage. ( 15989923 )
2005
39
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. ( 15565078 )
2004
40
Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. ( 15043988 )
2004
41
Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. ( 12678693 )
2003
42
Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. ( 12698036 )
2003
43
Fish odour syndrome with features of both primary and secondary trimethylaminuria. ( 12653714 )
2003
44
Trimethylaminuria and a human FMO3 mutation database. ( 12938085 )
2003
45
Deleterious mutations in the flavin-containing monooxygenase 3 (FMO3) gene causing trimethylaminuria. ( 12893987 )
2003
46
Trimethylaminuria: the fish malodor syndrome. ( 11259343 )
2001
47
A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. ( 11266081 )
2001
48
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria. ( 10338091 )
1999
49
Trimethylaminuria: susceptibility of heterozygotes. ( 10609842 )
1999
50
Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort. ( 10479479 )
1999
51
Mild trimethylaminuria caused by common variants in FMO3 gene. ( 10485731 )
1999
52
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. ( 9536088 )
1998
53
Transient trimethylaminuria in childhood. ( 9846928 )
1998
54
Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria. ( 9282831 )
1997
55
A pharmacogenetic study of trimethylaminuria in Orientals. ( 9429235 )
1997
56
Congenital intrahepatic portocaval shunt associated with trimethylaminuria ( 9069234 )
1997
57
Congenital intrahepatic portocaval shunt associated with trimethylaminuria. ( 9156859 )
1997
58
Trimethylaminuria associated with seizures and behavioural disturbance: a case report. ( 9304724 )
1997
59
Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole. ( 7474897 )
1995
60
Diagnosis of a new case of trimethylaminuria using direct proton NMR spectroscopy of urine. ( 7564241 )
1995
61
Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13). ( 8434620 )
1993
62
Trimethylaminuria ( 20301282 )
1993
63
Effects of dietary alteration on trimethylaminuria as measured by mass spectrometry. ( 2019317 )
1991
64
Trimethylaminuria: the detection of carriers using a trimethylamine load test. ( 2501587 )
1989
65
Lactulose in trimethylaminuria, the fish-odour syndrome. ( 2708075 )
1989
66
An unusual case of trimethylaminuria. ( 2713263 )
1989
67
Trimethylaminuria ('fish-odour syndrome'): a study of an affected family. ( 3345632 )
1988
68
Trimethylaminuria (fish-odour syndrome): an inborn error of oxidative metabolism. ( 2881174 )
1987
69
Trimethylaminuria, diagnosed by gas chromatography with nitrogen detection. ( 3126363 )
1987
70
Fish odor syndrome: trimethylaminuria with milk as chief dietary factor. ( 4070086 )
1985
71
The fish odor syndrome. Trimethylaminuria. ( 6690785 )
1984
72
Trimethylaminuria. ( 6838148 )
1983
73
Trimethylaminuria. ( 6796765 )
1980
74
Psychosocial problems as the major complication of an adolescent with trimethylaminuria. ( 448539 )
1979
75
Trimethylaminuria: the use of choline as an aid to diagnosis. ( 861177 )
1977
76
Proceedings: Trimethylaminuria or fish odour syndrome in a child. ( 945065 )
1976
77
Trimethylaminuria: diet does not always control the fishy odor. ( 987532 )
1976
78
Trimethylaminuria: fishy odors in children. ( 987531 )
1976
79
Trimethylaminuria and inherited Noonan's syndrome. ( 4119196 )
1973
80
Trimethylaminuria: the fish-odour syndrome. ( 4195988 )
1970

Variations for Trimethylaminuria

UniProtKB/Swiss-Prot genetic disease variations for Trimethylaminuria:

71 (showing 8, show less)
# Symbol AA change Variation ID SNP ID
1 FMO3 p.Met66Ile VAR_002423 rs72549323
2 FMO3 p.Pro153Leu VAR_002424 rs72549326
3 FMO3 p.Arg492Trp VAR_008145 rs72549334
4 FMO3 p.Ala52Thr VAR_008146 rs72549321
5 FMO3 p.Arg387Leu VAR_008147 rs72549331
6 FMO3 p.Glu32Lys VAR_037306 rs72549320
7 FMO3 p.Asn61Ser VAR_037307 rs72549322
8 FMO3 p.Met434Ile VAR_037308 rs72549332

ClinVar genetic disease variations for Trimethylaminuria:

6 (showing 13, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 FMO3 NM_006894.5(FMO3): c.913G> T (p.Glu305Ter) single nucleotide variant Pathogenic rs61753344 GRCh37 Chromosome 1, 171083232: 171083232
2 FMO3 NM_001002294.2(FMO3): c.198G> T (p.Met66Ile) single nucleotide variant Pathogenic rs72549323 GRCh37 Chromosome 1, 171072991: 171072991
3 FMO3 NM_001002294.2(FMO3): c.154G> A (p.Ala52Thr) single nucleotide variant Pathogenic rs72549321 GRCh37 Chromosome 1, 171072947: 171072947
4 FMO3 NM_006894.5(FMO3): c.458C> T (p.Pro153Leu) single nucleotide variant Pathogenic rs72549326 GRCh37 Chromosome 1, 171076952: 171076952
5 FMO3 NM_006894.5(FMO3): c.1474C> T (p.Arg492Trp) single nucleotide variant Pathogenic/Likely pathogenic rs72549334 GRCh37 Chromosome 1, 171086457: 171086457
6 FMO3 NM_001002294.2(FMO3): c.1160G> T (p.Arg387Leu) single nucleotide variant Pathogenic rs72549331 GRCh37 Chromosome 1, 171083479: 171083479
7 FMO3 NM_001002294.2(FMO3): c.940G> T (p.Glu314Ter) single nucleotide variant Pathogenic rs72549330 GRCh37 Chromosome 1, 171083259: 171083259
8 FMO3 NM_006894.5(FMO3): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic rs72549322 GRCh37 Chromosome 1, 171072975: 171072975
9 FMO3 NM_001002294.2(FMO3): c.1302G> A (p.Met434Ile) single nucleotide variant Pathogenic rs72549332 GRCh37 Chromosome 1, 171086285: 171086285
10 FMO3 FMO3, 2-EX DEL deletion Pathogenic
11 FMO3 NM_001002294.2(FMO3): c.94G> A (p.Glu32Lys) single nucleotide variant Pathogenic rs72549320 GRCh37 Chromosome 1, 171061893: 171061893
12 FMO3 FMO3, 1-BP DEL, 191A deletion Pathogenic
13 FMO3 NM_006894.5(FMO3): c.591_592delTG (p.Cys197Terfs) deletion Pathogenic rs3832024 GRCh37 Chromosome 1, 171077326: 171077327

Expression for Trimethylaminuria

Search GEO for disease gene expression data for Trimethylaminuria.

Pathways for Trimethylaminuria

Pathways related to Trimethylaminuria according to KEGG:

36
(showing 1, show less)
# Name Kegg Source Accession
1 Drug metabolism - cytochrome P450 hsa00982

Pathways related to Trimethylaminuria according to GeneCards Suite gene sharing:

(showing 6, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 FMO1 FMO2 FMO3 FMO4 FMO5
2
Show member pathways
12.04 FMO1 FMO2 FMO3 FMO4 FMO5
3
Show member pathways
11.27 FMO1 FMO3
4
Show member pathways
11.11 FMO1 FMO3
5
Show member pathways
10.66 FMO1 FMO2 FMO3 FMO4 FMO5
6
Show member pathways
10.51 FMO3 FMO5

GO Terms for Trimethylaminuria

Cellular components related to Trimethylaminuria according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.72 FMO1 FMO2 FMO3 FMO4 FMO5
2 endoplasmic reticulum GO:0005783 9.65 FMO1 FMO2 FMO3 FMO4 FMO5
3 endoplasmic reticulum membrane GO:0005789 9.55 FMO1 FMO2 FMO3 FMO4 FMO5
4 intracellular membrane-bounded organelle GO:0043231 9.35 FMO1 FMO2 FMO3 FMO4 FMO5
5 organelle membrane GO:0031090 9.02 FMO1 FMO2 FMO3 FMO4 FMO5

Biological processes related to Trimethylaminuria according to GeneCards Suite gene sharing:

(showing 6, show less)
# Name GO ID Score Top Affiliating Genes
1 xenobiotic metabolic process GO:0006805 9.43 FMO1 FMO2 FMO3
2 drug metabolic process GO:0017144 9.37 FMO1 FMO2
3 toxin metabolic process GO:0009404 9.32 FMO1 FMO2
4 organic acid metabolic process GO:0006082 9.16 FMO1 FMO2
5 oxidation-reduction process GO:0055114 9.02 FMO1 FMO2 FMO3 FMO4 FMO5
6 NADPH oxidation GO:0070995 8.96 FMO1 FMO2

Molecular functions related to Trimethylaminuria according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.72 FMO1 FMO2 FMO3 FMO4 FMO5
2 monooxygenase activity GO:0004497 9.56 FMO1 FMO2 FMO3 FMO4
3 flavin adenine dinucleotide binding GO:0050660 9.55 FMO1 FMO2 FMO3 FMO4 FMO5
4 NADP binding GO:0050661 9.35 FMO1 FMO2 FMO3 FMO4 FMO5
5 N,N-dimethylaniline monooxygenase activity GO:0004499 9.02 FMO1 FMO2 FMO3 FMO4 FMO5

Sources for Trimethylaminuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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