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Trimethylaminuria(TMAU)

MedGen UID:
83350
Concept ID:
C0342739
Disease or Syndrome
Synonyms: Fish malodor syndrome; FISH-ODOR SYNDROME; Stale fish syndrome; TMAU; TMAuria
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
SNOMED CT: Trimethylaminuria (237959005); Fish odor syndrome (237959005)
 
Gene: FMO3
Cytogenetic location: 1q24.3
OMIM: 602079

Disease characteristics

Excerpted from the GeneReview: Trimethylaminuria
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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
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.  http://ghr.nlm.nih.gov/condition/trimethylaminuria

Clinical features

Trimethylaminuria
MedGen UID:
505566
Concept ID:
CN003265
Finding
Increased concentration of `trimethylamine` (CHEBI:18139) in the urine.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Tachycardia
MedGen UID:
21453
Concept ID:
C0039231
Pathologic Function
Tachyarrhythmia is any disturbance of the heart rhythm in which the heart rate is abnormally increased.
Hypertension
MedGen UID:
635666
Concept ID:
C0497247
Finding
A finding of increased blood pressure; not necessarily hypertensive disorder
Neutropenia
MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
An abnormal decrease in the number of neutrophils, a type of white blood cell.
Anemia
MedGen UID:
56401
Concept ID:
C0162119
Finding
A laboratory test result which indicates decreased levels of hemoglobin in a biological specimen.
Trimethylaminuria
MedGen UID:
505566
Concept ID:
CN003265
Finding
Increased concentration of `trimethylamine` (CHEBI:18139) in the urine.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Neutropenia
MedGen UID:
18030
Concept ID:
C0027947
Disease or Syndrome
An abnormal decrease in the number of neutrophils, a type of white blood cell.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Enlargement of the spleen.
Recurrent pneumonia
MedGen UID:
505924
Concept ID:
CN005690
Finding
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

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. [Epub ahead of print] PMID: 22126753Free PMC Article

Recent clinical studies

Etiology

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. [Epub ahead of print] PMID: 21851918
Shimizu M, Kozono M, Murayama N, Yamazaki H
Drug Metab Pharmacokinet 2009;24(6):549-52. PMID: 20045990
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. [Epub ahead of print] PMID: 19577495
Yamazaki H, Shimizu M
Curr Drug Metab 2007 Jun;8(5):487-91. PMID: 17584019
Teresa E, Lonardo F, Fiumara A, Lombardi C, Russo P, Zuppi C, Scarano G, Musumeci S, Gianfrancesco F
Mol Genet Metab 2006 Jun;88(2):192-5. Epub 2006 Apr 4 doi: 10.1016/j.ymgme.2006.02.014. [Epub ahead of print] PMID: 16600650

Diagnosis

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
Shephard EA, Treacy EP, Phillips IR
Eur J Hum Genet 2012 Mar;20(3) Epub 2011 Nov 30 doi: 10.1038/ejhg.2011.214. [Epub ahead of print] PMID: 22126753Free PMC Article
Christodoulou J
J Paediatr Child Health 2012 Mar;48(3):E153-5. Epub 2011 Jan 31 doi: 10.1111/j.1440-1754.2010.01978.x. [Epub ahead of print] PMID: 21276117
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. [Epub ahead of print] PMID: 21851918
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

Therapy

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. [Epub ahead of print] 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
Chen H, Aiello F
Am J Med Genet 1993 Feb 1;45(3):335-9. doi: 10.1002/ajmg.1320450310. PMID: 8434620

Prognosis

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 19577495
Forrest SM, Knight M, Akerman BR, Cashman JR, Treacy EP
Pharmacogenetics 2001 Mar;11(2):169-74. PMID: 11266081
Fernández MS, Gutiérrez C, Vila JJ, López A, Ibáñez V, Sangüesa C, Lluna J, Barrios JE
Pediatr Surg Int 1997 Feb;12(2-3):196-7. PMID: 9156859

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 19577495
Motika MS, Zhang J, Zheng X, Riedler K, Cashman JR
Mol Genet Metab 2009 Jun;97(2):128-35. Epub 2009 Feb 27 doi: 10.1016/j.ymgme.2009.02.006. [Epub ahead of print] PMID: 19321370Free PMC Article
Cashman JR, Bi YA, Lin J, Youil R, Knight M, Forrest S, Treacy E
Chem Res Toxicol 1997 Aug;10(8):837-41. doi: 10.1021/tx9700533. PMID: 9282831

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