Trimethylaminuria. (26th April 2016)

• Record Type: Journal Article
• Authors: Sabir, Numaera; Jones, Elizabeth A; Padmakumar, Beena
• Is Part Of: BMJ case reports. Volume 2016
• Publication Date: 2016-04-26
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2015-213742
• Languages: English
• ISSNs: 1757-790X

Abstract

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.