Clinical utility gene card for: Trimethylaminuria

European Journal of Human Genetics

Volumn 20, Issue 3, 2012, Pages 365-

  Shephard, Elizabeth A ^a   Treacy, Eileen P ^b,c   Phillips, Ian R ^d  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^c TRINITY COLLEGE DUBLIN   (Ireland)

^d QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

TRIMETHYLAMINE; DIMETHYLANILINE MONOOXYGENASE; DIMETHYLANILINE MONOOXYGENASE (N-OXIDE FORMING); METHYLAMINE; OXYGENASE;

ARTICLE; CARDAMINE; COST EFFECTIVENESS ANALYSIS; DIET RESTRICTION; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; FMO3 GENE; GENE; GENE DELETION; GENETIC SCREENING; HAPLOTYPE; HETEROZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; METABOLIC DISORDER; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; TRIMETHYLAMINURIA; GENETICS; INBORN ERROR OF METABOLISM; MUTATION; URINE;

HUMANS; METABOLISM, INBORN ERRORS; METHYLAMINES; MUTATION; OXYGENASES;

EID: 84857193653     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.214     Document Type: Article

References (39)

1. Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR: Missense mutation in flavin-containing mono-oxygenase 3 gene, FMO3, underlies fish-odour syndrome. Nat Genet 1997; 17: 491-494. (Pubitemid 27518405)
2. Treacy EP, Akerman BR, Chow LML et al: Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Hum Mol Genet 1998; 7: 839-845. (Pubitemid 28221247)
3. Motika MS, Zhang J, Zheng X, Riedler K, Cashman JR: Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria. Mol Genet Metab 2009; 97: 128-135.
4. Hernandez D, Addou S, Lee D, Orengo C, Shephard EA, Phillips IR: Trimethylaminuria and a human FMO3 mutation database. Hum Mutat 2003; 22: 209-213. (Pubitemid 37071637)
5. Phillips IR, Shephard EA: Flavin-containing monooxygenases: mutations, disease and drug response. Trends Pharmacol Sci 2008; 29: 294-301.
6. Phillips IR, Shephard EA: Trimethylaminuria. GeneReviews at GeneTests: Medical Genetics Information Resource (database online): University of Washington, Seattle, USA, 1997-2011. Available at http://www .ncbi .nlm .nih .gov/books/NBK1103/, updated 2011.
7. Phillips IR, Francois AA, Shephard EA: The flavin-containing monoooxygenases (FMOs): genetic variation and its consequences for the metabolism of therapeutic drugs. Curr Pharmacogenomics 2007; 5: 292-313. (Pubitemid 350268214)
8. Koukouritaki SB, Poch MT, Henderson MC et al: Identification and functional analysis of common human flavin-containing monooxygenase 3 genetic variants. J Pharmacol Exp Ther 2007; 320: 266-273. (Pubitemid 46028481)
9. Koukouritaki SB, Hines RN: Flavin-containing monooxygenase genetic polymorphism: impact on chemical metabolism and drug development. Pharmacogenomics 2005; 6: 807-822. (Pubitemid 41724355)
10. Zschocke J, Kohlmueller D, Quak E, Meissner T, Hoffmann GF, Mayatepek E: Mild trimethylaminuria caused by common variants in FMO3 gene. Lancet 1999; 354: 834-835. (Pubitemid 29415594)
11. Zschocke J, Mayatepek E: Biochemical and molecular studies in mild flavin monooxygenase deficiency. J Inherit Metab Dis 2000; 23: 378-382. (Pubitemid 30364776)
12. Koukouritaki SB, Simpson P, Yeung CK, Rettie AE, Hines RN: Human hepatic flavincontaining monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression. Pediatr Res 2002; 51: 236-243. (Pubitemid 34101340)
13. Koukouritaki SB, Poch MT, Cabacungan ET, McCarver DG, Hines RN: Discovery of novel flavin-containing monooxygenase 3 (FMO3) single nucleotide polymorphisms and functional analysis of upstream haplotype variants. Mol Pharmacol 2005; 68: 383-392. (Pubitemid 41058302)
14. Forrest SM, Knight M, Akerman BR, Cashman JR, Treacy EP: A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria. Pharmacogenetics 2001; 11: 169-174. (Pubitemid 32216127)
15. Murphy HC, Dolphin CT, Janmohamed A et al: A novel mutation in the flavin-containing monooxygenase 3 gene, FM03, that causes fish-odour syndrome: activity of the mutant enzyme assessed by proton NMR spectroscopy. Pharmacogenetics 2000; 10: 439-451. (Pubitemid 30433577)
16. Allerston CK, Vetti HH, Houge G, Phillips IR, Shephard EA: A novel mutation in the flavin-containing monooxygenase 3 gene (FMO3) of a Norwegian family causes trimethylaminuria. Mol Genet Metab 2009; 98: 198-202.
17. Dolphin CT, Janmohamed A, Smith RL, Shephard EA, Phillips IR: Compound heterozygosity for missense mutations in the flavin-containing monooxygenase 3 (FM03) gene in patients with fish-odour syndrome. Pharmacogenetics 2000; 10: 799-807. (Pubitemid 32042832)
18. Al-Waiz M, Ayesh R, Mitchell SC, Idle JR, Smith RL: A genetic polymorphism of the Noxidation of trimethylamine in humans. Clin Pharmacol Ther 1987; 42: 588-594. (Pubitemid 18002179)
19. Wise PM, Eades J, Tjoa S, Fennessey PV, Preti G: Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. Am J Med 2011; 124: 1058-1063.
20. Mitchell SC, Zhang AQ, Barrett T, Ayesh R, Smith RL: Studies on the discontinuous Noxidation of trimethylamine among Jordanian, Ecuadorian and New Guinean populations. Pharmacogenetics 1997; 7: 45-50. (Pubitemid 27153318)
21. Mitchell SC, Smith RL: Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos 2001; 29: 517-521. (Pubitemid 32275527)
22. Mitchell S: Trimethylaminuria (fish-odour syndrome) and oral malodour. Oral Dis 2005; (Suppl 1): 10-13. (Pubitemid 44944424)
23. Treacy EP: Trimethylaminuria and deficiency of flavin-containing monooxygenase Type (FMO3). www .ommbid .com. New York: McGraw-Hill, 2007, Chapter 88 .1.
24. Mackay RJ, McEntyre CJ, Henderson C, Lever M, George PM: Trimethylaminuria: causes and diagnosis of a socially distressing condition. Clin Biochem Rev 2011; 32: 33-43.
25. Zhang AQ, Mitchell SC, Smith RL: Exacerbation of symptoms of fish-odour syndrome during menstruation. Lancet 1996; 348: 1740-1741. (Pubitemid 27007557)
26. Shimizu M, Cashman JR, Yamazaki H: Transient trimethylaminuria related to menstruation. BMC Med Genet 2007; 8: 2.
27. Mayatepek E, Kohlmüller D: Transient trimethylaminuria in childhood. Acta Paediatrica 1998; 87: 1205-1207. (Pubitemid 28538436)
28. Heaton P: Ability to detect malodour might be genetic (letter; comment). BMJ 1993; 307: 1009. (Pubitemid 23306796)
29. Tangerman A: Halitosis in medicine: a review. Int Dent J 2002; 52 (Suppl 3): 201-206.
30. Binzak BA, Wevers RA, Moolenaar SH et al: Cloning of dimethylglycine dehydrogenase and a new human inborn error of metabolism, dimethylglycine dehydrogenase deficiency. Am J Hum Genet 2001; 68: 839-847. (Pubitemid 32289729)
31. Cashman JR, Camp K, Fakharzadeh SS et al: Biochemical and clinical aspects of the human flavin-containing monooxygenase form 3 (FMO3) related to trimethylaminuria. Curr Drug Metab 2003; 4: 151-170. (Pubitemid 36443193)
32. Al-Waiz M, Ayesh R, Mitchell SC, Idle JR, Smith RL: Trimethylaminuria: the detection of carriers using a trimethylamine load test. J Inherit Metab Dis 1989; 12: 80-85. (Pubitemid 19095912)
33. Chalmers RA, Bain MD, Michelakakis H, Zschocke J, Iles RA: Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. J Inherit Metab Dis 2006; 29: 162-172.
34. Busby MG, Fischer L, da Costa KA, Thompson D, Mar MH, Zeisel SH: Choline-and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. J Am Diet Assoc 2004; 104: 1836-1845. (Pubitemid 39572871)
35. Treacy E, Johnson D, Pitt JJ, Danks DM: Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole. J Inherit Metab Dis 1995; 18: 306-312.
36. Fraser-Andrews EA, Manning NJ, Ashton GH, Eldridge P, McGrath J, Menage Hdu P: Fish odour syndrome with features of both primary and secondary trimethylaminuria. Clin Exp Dermatol 2003; 28: 203-205. (Pubitemid 36459632)
37. Yamazaki H, Fujieda M, Togashi M et al: Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. Life Sci 2004; 74: 2739-2747. (Pubitemid 38388499)
38. Todd WA: Psychosocial problems as the major complication of an adolescent with trimethylaminuria. J Pediatr 1979; 94: 936-937. (Pubitemid 9150234)
39. Wilcken B: Acid soaps in the fish odour syndrome. Br J Med 1993; 307: 1497. (Pubitemid 23351465)