Alexandra Oliveira, Ana Faria, Mónica Oliva
Body odour can be a manifestation of several metabolic diseases. Diagnosis may be difficult because the disease is often unknown to the doctor. We present a child observed in a general paediatric clinic for bad body odour after eating fish. Given the suspicion of trimethylaminuria, molecular study of flavin mono-oxygenase 3 gene was requested. A pathogenic mutation and polymorphism were identified, which could explain the complaint. Dietary and hygienic measures were imposed with symptom improvement.
2015: BMJ Case Reports