Kloster Ida, Erichsen Martina Moter
Tidsskr Nor Laegeforen. 2021 Sep 10;141. doi: 10.4045/tidsskr.21.0142. Print 2021 Sep 28.
Trimethylaminuria is a rare disorder characterised by foul odour from bodily fluids and breath. The condition is caused by a homozygous mutation in the FMO3 (flavin monooxygenase 3) gene coding for the enzyme that converts TMA (trimethylamine) to trimethylamine N-oxide. The result is elevated levels of secreted trimethylamine, which has a strong odour. The condition is likely to affect mental, emotional and social health. The diagnosis is reached by testing of free TMA (trimethylamine) and percentage N-oxidation in urine samples or by genetic testing.
A man in his fifties had from childhood occasionally been told that his breath resembled rotten fish. He had searched for a diagnosis on the internet and was referred to testing for trimethylaminuria, and the diagnosis was confirmed.
Urine test samples with high levels of free TMA and subnormal percentage of trimethylamine N-oxide revealed the diagnosis of trimethylaminuria. There is no causal treatment. Patients are advised to avoid choline-rich foods and take hygienic measures.
三甲胺尿症是一种罕见的疾病，其特征是体液和呼吸产生恶臭。这种病症是由编码将三甲胺（TMA）转化为三甲胺N-氧化物的酶的FMO3（黄素单加氧酶3）基因中的纯合突变引起的。结果是分泌的三甲胺水平升高，产生强烈气味。这种病症可能会影响心理、情绪和社会健康。通过检测尿液样本中的游离三甲胺（TMA）和N-氧化百分比或通过基因检测来做出诊断。
一名五十多岁的男子从小就偶尔被告知他的口气闻起来像臭鱼。他在互联网上寻求诊断，并被转介进行三甲胺尿症检测，诊断得到证实。
尿液检测样本中游离TMA水平高且三甲胺N-氧化物百分比低于正常水平，揭示了三甲胺尿症的诊断。没有因果治疗方法。建议患者避免食用富含胆碱的食物并采取卫生措施。
