[Primary trimethylaminuria: the fish odor syndrome]
SourceEndocrinologia y Nutrición, 56, 6, (2009), pp. 337-40
Article / Letter to editor
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Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Endocrinologia y Nutrición
SubjectDCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; NCMLS 4: Energy and redox metabolism
Primary trimethylaminuria, or fish odor syndrome, is a congenital metabolic disorder characterized by a failure in the hepatic trimethylamine (TMA) oxidation route to trimethylamine N-oxide (TMANO). TMA is mostly derived from dietary precursors such as choline, carnitine and TMANO. The presence of abnormal amounts of TMA in the urine, sweat, exhaled air and other body secretions confers a very unpleasant body odor resembling that of decaying fish. As a consequence, patients can suffer from serious psychosocial sequelae. We present a case of primary trimethylaminuria with the aim of raising awareness about this condition.
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