PT  - JOURNAL ARTICLE
AU  - Numaera Sabir
AU  - Elizabeth A Jones
AU  - Beena Padmakumar
TI  - Trimethylaminuria
AID  - 10.1136/bcr-2015-213742
DP  - 2016 Apr 26
TA  - BMJ Case Reports
PG  - bcr2015213742
VI  - 2016
4099  - http://casereports.bmj.com/content/2016/bcr-2015-213742.short
4100  - http://casereports.bmj.com/content/2016/bcr-2015-213742.full
AB  - 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.