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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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Trimethylaminuria (237959005); Fish odor syndrome (237959005)
 
Gene (location): FMO3 (1q24.3)
OMIM®: 602079
HPO: HP:0003614
Orphanet: ORPHA468726

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 GHR
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.  https://ghr.nlm.nih.gov/condition/trimethylaminuria

Clinical features

Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure is the force of your blood pushing against the walls of your arteries. Each time your heart beats, it pumps blood into the arteries. Your blood pressure is highest when your heart beats, pumping the blood. This is called systolic pressure. When your heart is at rest, between beats, your blood pressure falls. This is called diastolic pressure. . Your blood pressure reading uses these two numbers. Usually the systolic number comes before or above the diastolic number. A reading of. -119/79 or lower is normal blood pressure. -140/90 or higher is high blood pressure. -Between 120 and 139 for the top number, or between 80 and 89 for the bottom number is called prehypertension. Prehypertension means you may end up with high blood pressure, unless you take steps to prevent it. High blood pressure usually has no symptoms, but it can cause serious problems such as stroke, heart failure, heart attack and kidney failure. You can control high blood pressure through healthy lifestyle habits such as exercise and the DASH diet and taking medicines, if needed. . NIH: National Heart, Lung, and Blood Institute.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrimethylaminuria

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

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

Brugère JF, Borrel G, Gaci N, Tottey W, O'Toole PW, Malpuech-Brugère C
Gut Microbes 2014 Jan-Feb;5(1):5-10. Epub 2013 Oct 31 doi: 10.4161/gmic.26749. PMID: 24247281Free PMC Article
Shimizu M, Allerston CK, Shephard EA, Yamazaki H, Phillips IR
Br J Clin Pharmacol 2014 May;77(5):839-51. doi: 10.1111/bcp.12240. PMID: 24028545Free 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
Shimizu M, Kozono M, Murayama N, Yamazaki H
Drug Metab Pharmacokinet 2009;24(6):549-52. PMID: 20045990
Yamazaki H, Shimizu M
Curr Drug Metab 2007 Jun;8(5):487-91. PMID: 17584019

Diagnosis

Sabir N, Jones EA, Padmakumar B
BMJ Case Rep 2016 Apr 26;2016 doi: 10.1136/bcr-2015-213742. PMID: 27118741
D'Angelo R, Scimone C, Esposito T, Bruschetta D, Rinaldi C, Ruggeri A, Sidoti A
J Med Case Rep 2014 Oct 6;8:328. doi: 10.1186/1752-1947-8-328. PMID: 25288227Free PMC Article
Shimizu M, Allerston CK, Shephard EA, Yamazaki H, Phillips IR
Br J Clin Pharmacol 2014 May;77(5):839-51. doi: 10.1111/bcp.12240. PMID: 24028545Free PMC Article
Ramos N, Wystrach C, Bolton M, Shaywitz J, IsHak WW
J Nerv Ment Dis 2013 Jun;201(6):537-8. doi: 10.1097/NMD.0b013e31829482fd. PMID: 23719328
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

Therapy

Brugère JF, Borrel G, Gaci N, Tottey W, O'Toole PW, Malpuech-Brugère C
Gut Microbes 2014 Jan-Feb;5(1):5-10. Epub 2013 Oct 31 doi: 10.4161/gmic.26749. PMID: 24247281Free PMC Article
Pellicciari A, Posar A, Cremonini MA, Parmeggiani A
Brain Dev 2011 Aug;33(7):593-6. Epub 2010 Oct 20 doi: 10.1016/j.braindev.2010.09.007. PMID: 20970269
Shimizu M, Kozono M, Murayama N, Yamazaki H
Drug Metab Pharmacokinet 2009;24(6):549-52. PMID: 20045990
Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA
J Inherit Metab Dis 2006 Feb;29(1):162-72. doi: 10.1007/s10545-006-0158-6. PMID: 16601883
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. PMID: 12678693

Prognosis

Shephard EA, Treacy EP, Phillips IR
Eur J Hum Genet 2015 Sep;23(9) Epub 2014 Oct 22 doi: 10.1038/ejhg.2014.226. PMID: 25335494Free PMC Article
Shimizu M, Kobayashi Y, Hayashi S, Aoki Y, Yamazaki H
Mol Genet Metab 2012 Nov;107(3):330-4. Epub 2012 Jul 1 doi: 10.1016/j.ymgme.2012.06.014. PMID: 22819296
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
Allerston CK, Vetti HH, Houge G, Phillips IR, Shephard EA
Mol Genet Metab 2009 Sep-Oct;98(1-2):198-202. Epub 2009 Jun 6 doi: 10.1016/j.ymgme.2009.06.002. PMID: 19577495
Forrest SM, Knight M, Akerman BR, Cashman JR, Treacy EP
Pharmacogenetics 2001 Mar;11(2):169-74. PMID: 11266081

Clinical prediction guides

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
Allerston CK, Vetti HH, Houge G, Phillips IR, Shephard EA
Mol Genet Metab 2009 Sep-Oct;98(1-2):198-202. Epub 2009 Jun 6 doi: 10.1016/j.ymgme.2009.06.002. PMID: 19577495
Yamazaki H, Shimizu M
Curr Drug Metab 2007 Jun;8(5):487-91. PMID: 17584019
Arseculeratne G, Wong AK, Goudie DR, Ferguson J
Arch Dermatol 2007 Jan;143(1):81-4. doi: 10.1001/archderm.143.1.81. PMID: 17224546

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