부산대학교 도서관

Trimethylaminuria, also known as Fish Odor Syndrome (FOS), is a condition characterized by the presence of high concentrations of trimethylamine (TMA) in urine, sweat and expired air of affected patients. Diagnosis of this benign but unpleasant disease is mainly based on clinical presentation and assessment of TMA and its metabolite, TMAO (trimethylamine-N-oxide), concentrations in urine of patients. We here described the validation of an analytical method for measurement of TMA and TMAO in urine using nuclear magnetic resonance (NMR) according to the specifications of the ISO 15189 norm. We used a fast validation protocol, based exactitude profile method, enabling to determine accuracy, intra and inter-day precision from a limited number of samples. The linearity was established from 2.5 to 100 mg/L for TMA measurement and from 10 to 1000 mg/L for TMAO measurement, with good analytical performances i.e. accuracy, intra and inter-day precision. We also report a case diagnose for FOS from this method. This method validation ensures the robustness of NMR in routine use for diagnosis of trimethylaminuria, as part of the reference center for inherited metabolic diseases at the Tours hospital. • Analytical method validation for measurement of TMA and TMAO in urine according to the specifications of the ISO 15189 norm. • Standardized analytical method for diagnosis of Fish Odor Syndrom (FOS). • This work opens the opportunity to use the exactitude method profile to validate biomarkers that are rarely explored. • Evidence of the feasibility and usefulness of the NMR in routine use for diagnosis of trimethylaminuria. [ABSTRACT FROM AUTHOR]