Trimethylaminuria
Numaera Sabir1, Elizabeth A Jones2, Beena Padmakumar3
1Department of Paediatrics, Pennine Acute Trusts, Oldham, UK.
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.
More Related Videos
08:41Integration of Miniaturized Solid Phase Extraction and LC-MS/MS Detection of 3-Nitrotyrosine in Human Urine for Clinical Applications
Published on: July 14, 2017
12:47Workflow Based on the Combination of Isotopic Tracer Experiments to Investigate Microbial Metabolism of Multiple Nutrient Sources
Published on: January 22, 2018
Related Concept Videos
Physical Properties of Amines
Urea Cycle
Preparation of Amines: Alkylation of Ammonia and Amines
Each alkylation step makes the nitrogen center more nucleophilic, which triggers successive alkylations until a quaternary ammonium salt is formed. Considering...
Mass Spectrometry: Amine Fragmentation
In amines, the number of nitrogen atoms affects the mass of the molecular ion, which is described by the nitrogen rule of mass spectrometry. This rule states that a compound containing a single...
Urine Studies I: Urinalysis
Mass Spectrometry of Amines
