Transient trimethylaminuria in childhood

Abstract

Trimethylaminuria, also called fish‐odour syndrome, is an inherited disorder caused by deficient N‐oxidation and increased excretion of trimethylamine. This study reports on two unrelated and otherwise healthy children with transient trimethylaminuria, a hitherto unknown abnormality, without N‐oxidation deficiency. This demonstrates that a diagnosis offish‐odour syndrome should include the analysis of urinary excretion not only of trimethylamine but also of trimethylamine‐N‐oxide. Since transient trimethylaminuria may be a common condition and no cause for it can presently be recognized, such patients will require careful follow‐up.