Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub-Saharan Africa.

ABSTRACT: Primary trimethylaminuria (TMAU) is characterized by systemic accumulation of trimethylamine (TMA) due to the deficient activity of flavin-containing monooxygenase 3 (FMO3). The disorder does not have detrimental pathophysiological consequences, but patients develop psychological symptoms due to the emotionally debilitating bodily odor defined as decaying fish that affects their quality of life. Here, we illustrate the utility of a diagnostic workup on an adolescent with primary TMAU, including biochemical and genetic investigations that confirm the diagnosis. A direct substrate (TMA) loading protocol was used, followed by the collection of urine samples at predetermined intervals. The conversion of TMA to trimethylamine oxide (TMAO), monitored by ¹H-NMR spectrometry, showed a c

SUBMITTER: Dercksen M 

PROVIDER: S-EPMC11897904 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature