Trimethylaminuria

Trimethylaminuria (TMAU) is a rare metabolic disorder resulting in the accumulation of trimethylamine. Primary TMAU is an autosomal recessive genetic condition that results in the deficiency or dysfunction of the hepatic enzyme flavin monooxygenase 3. Trimethylamine is a foul-smelling metabolite excreted in body fluids causing affected individuals to exude a fishy odor. While not a life-threatening condition in and of itself, TMAU can have significant psychological and social implications. Proper diagnosis and implementation of appropriate management strategies can help improve symptoms and overall quality of life for patients with TMAU. This activity reviews the pathogenesis, pathophysiologic mechanisms, clinical features, diagnostic testing, and management strategies of TMAU and highlights the integral role of the interprofessional team in treating patients with this rare condition.

Credit & MOC Details

Credit information is provided by the course provider. We recommend confirming credit eligibility with the provider or your licensing board before starting the activity.