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Trimethylaminuria(TMAU)

MedGen UID:
83350
Concept ID:
C0342739
Disease or Syndrome
Synonyms: Fish malodor syndrome; FISH-ODOR SYNDROME; Primary Trimethylaminuria; Stale fish syndrome; TMAU; TMAuria
SNOMED CT: Trimethylaminuria (237959005); Fish odor syndrome (237959005)
 
Gene (location): FMO3 (1q24.3)
 
HPO: HP:0003614
Monarch Initiative: MONDO:0011182
OMIM®: 602079
Orphanet: ORPHA35056

Disease characteristics

Excerpted from the GeneReview: Primary Trimethylaminuria
Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause. [from GeneReviews]
Authors:
Ian R Phillips  |  Elizabeth A Shephard   view full author information

Additional descriptions

From OMIM
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).  http://www.omim.org/entry/602079
From MedlinePlus Genetics
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 rotten or decaying fish. As this compound builds up in the body, it causes affected people to give off a strong fishy 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.  https://medlineplus.gov/genetics/condition/trimethylaminuria

Clinical features

From HPO
Trimethylaminuria
MedGen UID:
83350
Concept ID:
C0342739
Disease or Syndrome
Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.

Conditions with this feature

Trimethylaminuria
MedGen UID:
83350
Concept ID:
C0342739
Disease or Syndrome
Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause.

Professional guidelines

PubMed

Bouchemal N, Ouss L, Brassier A, Barbier V, Gobin S, Hubert L, de Lonlay P, Le Moyec L
Orphanet J Rare Dis 2019 Sep 18;14(1):222. doi: 10.1186/s13023-019-1174-6. PMID: 31533761Free PMC Article
Embade N, Cannet C, Diercks T, Gil-Redondo R, Bruzzone C, Ansó S, Echevarría LR, Ayucar MMM, Collazos L, Lodoso B, Guerra E, Elorriaga IA, Kortajarena MÁ, Legorburu AP, Fang F, Astigarraga I, Schäfer H, Spraul M, Millet O
Sci Rep 2019 Sep 10;9(1):13067. doi: 10.1038/s41598-019-49685-x. PMID: 31506554Free PMC Article
Shephard EA, Treacy EP, Phillips IR
Eur J Hum Genet 2012 Mar;20(3) Epub 2011 Nov 30 doi: 10.1038/ejhg.2011.214. PMID: 22126753Free PMC Article

Curated

Shephard EA, Treacy EP, Phillips IR
Eur J Hum Genet 2012 Mar;20(3) Epub 2011 Nov 30 doi: 10.1038/ejhg.2011.214. PMID: 22126753Free PMC Article

Recent clinical studies

Etiology

Lever M, McEntyre CJ, George PM, Chambers ST
Biol Chem 2017 Jun 27;398(7):775-784. doi: 10.1515/hsz-2016-0261. PMID: 27902449
Chhibber-Goel J, Gaur A, Singhal V, Parakh N, Bhargava B, Sharma A
Expert Rev Mol Med 2016 Apr 29;18:e8. doi: 10.1017/erm.2016.6. PMID: 27126549
Zhou J, Shephard EA
Mutat Res 2006 Jun;612(3):165-171. Epub 2006 Feb 14 doi: 10.1016/j.mrrev.2005.09.001. PMID: 16481213
Busby MG, Fischer L, da Costa KA, Thompson D, Mar MH, Zeisel SH
J Am Diet Assoc 2004 Dec;104(12):1836-45. doi: 10.1016/j.jada.2004.09.027. PMID: 15565078
Cashman JR
Pharmacogenomics 2002 May;3(3):325-39. doi: 10.1517/14622416.3.3.325. PMID: 12052141

Diagnosis

Flaherty CC, Phillips IR, Janmohamed A, Shephard EA
BMC Public Health 2024 Jan 18;24(1):222. doi: 10.1186/s12889-024-17685-w. PMID: 38238734Free PMC Article
Kloster I, Erichsen MM
Tidsskr Nor Laegeforen 2021 Sep 28;141 Epub 2021 Sep 10 doi: 10.4045/tidsskr.21.0142. PMID: 34597008
Sabir N, Jones EA, Padmakumar B
BMJ Case Rep 2016 Apr 26;2016 doi: 10.1136/bcr-2015-213742. PMID: 27118741Free PMC Article
Feller L, Blignaut E
SADJ 2005 Feb;60(1):17-9. PMID: 15861957
Brewster MA, Schedewie H
Ann Clin Lab Sci 1983 Jan-Feb;13(1):20-4. PMID: 6838148

Therapy

Fadhlaoui K, Arnal ME, Martineau M, Camponova P, Ollivier B, O'Toole PW, Brugère JF
Appl Microbiol Biotechnol 2020 Jun;104(11):4705-4716. Epub 2020 Apr 12 doi: 10.1007/s00253-020-10599-8. PMID: 32281023
Bain MA, Fornasini G, Evans AM
Curr Drug Metab 2005 Jun;6(3):227-40. doi: 10.2174/1389200054021807. PMID: 15975041
Cashman JR, Camp K, Fakharzadeh SS, Fennessey PV, Hines RN, Mamer OA, Mitchell SC, Nguyen GP, Schlenk D, Smith RL, Tjoa SS, Williams DE, Yannicelli S
Curr Drug Metab 2003 Apr;4(2):151-70. doi: 10.2174/1389200033489505. PMID: 12678693
Spielman AI, Bivona P, Rifkin BR
N Y State Dent J 1996 Dec;62(10):36-42. PMID: 9002736
Chen H, Aiello F
Am J Med Genet 1993 Feb 1;45(3):335-9. doi: 10.1002/ajmg.1320450310. PMID: 8434620

Prognosis

Alibrandi S, Nicita F, Donato L, Scimone C, Rinaldi C, D'Angelo R, Sidoti A
Molecules 2021 Nov 22;26(22) doi: 10.3390/molecules26227045. PMID: 34834137Free PMC Article
Bloom AJ, Murphy SE, Martinez M, von Weymarn LB, Bierut LJ, Goate A
Pharmacogenet Genomics 2013 Feb;23(2):62-8. doi: 10.1097/FPC.0b013e32835c3b48. PMID: 23211429Free PMC Article
Wise PM, Eades J, Tjoa S, Fennessey PV, Preti G
Am J Med 2011 Nov;124(11):1058-63. Epub 2011 Aug 16 doi: 10.1016/j.amjmed.2011.05.030. PMID: 21851918
Phillips IR, Shephard EA
Trends Pharmacol Sci 2008 Jun;29(6):294-301. Epub 2008 Apr 16 doi: 10.1016/j.tips.2008.03.004. PMID: 18423897
Rehman HU
Postgrad Med J 1999 Aug;75(886):451-2. doi: 10.1136/pgmj.75.886.451. PMID: 10646019Free PMC Article

Clinical prediction guides

Gao C, Catucci G, Castrignanò S, Gilardi G, Sadeghi SJ
Sci Rep 2017 Nov 7;7(1):14668. doi: 10.1038/s41598-017-15224-9. PMID: 29116146Free PMC Article
Ferreira F, Esteves S, Almeida LS, Gaspar A, da Costa CD, Janeiro P, Bandeira A, Martins E, Teles EL, Garcia P, Azevedo L, Vilarinho L
Gene 2013 Sep 15;527(1):366-70. Epub 2013 Jun 17 doi: 10.1016/j.gene.2013.05.025. PMID: 23791655
D'Angelo R, Esposito T, Calabrò M, Rinaldi C, Robledo R, Varriale B, Sidoti A
Gene 2013 Feb 25;515(2):410-5. Epub 2012 Dec 21 doi: 10.1016/j.gene.2012.12.047. PMID: 23266626
Phillips IR, Shephard EA
Trends Pharmacol Sci 2008 Jun;29(6):294-301. Epub 2008 Apr 16 doi: 10.1016/j.tips.2008.03.004. PMID: 18423897
Cashman JR
Pharmacogenomics 2002 May;3(3):325-39. doi: 10.1517/14622416.3.3.325. PMID: 12052141

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