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Case Reports
. 2016 Apr 26:2016:bcr2015213742.
doi: 10.1136/bcr-2015-213742.

Trimethylaminuria

Numaera Sabir  1 , Elizabeth A Jones  2 , Beena Padmakumar  3
Affiliations
Case Reports

Trimethylaminuria

Numaera Sabir et al. BMJ Case Rep. .

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.

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References

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