Fishing for a diagnosis.
A patient complaining of fishy smelling urine and perspiration appeared for evaluation. No other family members were similarly affected, and dietary manipulation partially controlled his complaint. Trimethylaminuria, originally described in 1970, is secondary to a deficiency of the liver enzyme, trimethylamine oxide. The frequency of the anomaly is unknown. Fishy smelling urine and perspiration are diagnostic of the anomaly. There are no known associated developmental defects.
Pauszek
M E
ME
D000293:Adolescent; D002794:Choline / Q000378:metabolism; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000652:urine; D008744:Methylamines / Q000652:urine*; D009812:Odorants
D008744:Methylamines; C023336:trimethylamine; D002794:Choline