[Primary trimethylaminuria: the fish odor syndrome].
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.
Montoya Alvarez
Teresa
T
Servicio de Endocrinología y Nutrición, Hospital Infanta Elena, Madrid, España. tmonalv@alumni.unav.es
Guardiola
Patricia Díaz
PD
Roldán
Juana Olivar
JO
Elviro
Rosa
R
Wevers
Ron
R
Guijarro
Guadalupe
G
D000328:Adult; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000628:therapy / Q000652:urine*; D008744:Methylamines / Q000652:urine*; D009812:Odorants
D008744:Methylamines; C023336:trimethylamine