Literature DB >> 27118741

Trimethylaminuria.

Numaera Sabir1, Elizabeth A Jones2, Beena Padmakumar3.   

Abstract

We report the case of a 9-year-old boy referred to secondary care with an unusual presentation of a fishy odour to his hands, feet, saliva and urine. Laboratory investigations including urine analysis and genetic testing confirmed the diagnosis of trimethylaminuria. The patient was referred to a geneticist and dietician, and consequently treated with dietary modification. He now has an arguably much improved quality of life. 2016 BMJ Publishing Group Ltd.

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Year:  2016        PMID： 27118741      PMCID： PMC4854139          DOI： 10.1136/bcr-2015-213742

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  16 in total

1.  Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency.

Authors:  J Zschocke; E Mayatepek
Journal:  J Inherit Metab Dis       Date:  2000-06       Impact factor: 4.982

2.  Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula.

Authors:  Ricci S Pardini; Robert E Sapien
Journal:  Pediatr Emerg Care       Date:  2003-04       Impact factor: 1.454

3.  Human hepatic flavin-containing monooxygenases 1 (FMO1) and 3 (FMO3) developmental expression.

Authors:  Sevasti B Koukouritaki; Pippa Simpson; Catherine K Yeung; Allan E Rettie; Ronald N Hines
Journal:  Pediatr Res       Date:  2002-02       Impact factor: 3.756

4.  Trimethylaminuria: causes and diagnosis of a socially distressing condition.

Authors:  Richard J Mackay; Christopher J McEntyre; Caroline Henderson; Michael Lever; Peter M George
Journal:  Clin Biochem Rev       Date:  2011-02

5.  Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children.

Authors:  R A Chalmers; M D Bain; H Michelakakis; J Zschocke; R A Iles
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

6.  Studies on the discontinuous N-oxidation of trimethylamine among Jordanian, Ecuadorian and New Guinean populations.

Authors:  S C Mitchell; A Q Zhang; T Barrett; R Ayesh; R L Smith
Journal:  Pharmacogenetics       Date:  1997-02

7.  Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole.

Authors:  E Treacy; D Johnson; J J Pitt; D M Danks
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 8.  Trimethylaminuria and a human FMO3 mutation database.

Authors:  Diana Hernandez; Sarah Addou; David Lee; Christine Orengo; Elizabeth A Shephard; Ian R Phillips
Journal:  Hum Mutat       Date:  2003-09       Impact factor: 4.878

Review 9.  Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13).

Authors:  H Chen; F Aiello
Journal:  Am J Med Genet       Date:  1993-02-01

10.  Fish odor syndrome (trimethylaminuria) supporting the possible FMO3 down expression in childhood: a case report.

Authors:  Rosalia D'Angelo; Concetta Scimone; Teresa Esposito; Daniele Bruschetta; Carmela Rinaldi; Alessia Ruggeri; Antonina Sidoti
Journal:  J Med Case Rep       Date:  2014-10-06
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  1 in total

1.  A case of axillary bromhidrosis secondary to trimethylaminuria successfully treated with microwave-based therapy.

Authors:  Forum Patel; Yingqi Michelle Tu; Stephanie Fernandes; Anne Chapas
Journal:  JAAD Case Rep       Date:  2019-10-07
  1 in total

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