Ulman Catherine A, Trevino Julian J, Miller Marvin, Gandhi Rishi K
Wright State University, Boonshoft School of Medicine.
Dermatol Online J. 2014 Jan 15;20(1):21260.
Trimethylaminuria is a rare, autosomal recessive, metabolic disorder that results in accumulation of trimethylamine (TMA), which smells like rotten fish. The chemical is excreted in sweat and urine owing to a deficiency in the enzyme flavin monooxygenase 3 (FMO3). We report a case of trimethylaminuria in a 12-year-old girl. The patient failed treatment with diet and hygiene modification, but achieved symptomatic improvement after a four-month course of metronidazole.
三甲胺尿症是一种罕见的常染色体隐性代谢紊乱疾病,会导致三甲胺(TMA)积聚,闻起来像腐烂的鱼。由于黄素单加氧酶3(FMO3)缺乏,这种化学物质会通过汗液和尿液排出。我们报告了一例12岁女孩患三甲胺尿症的病例。该患者通过饮食和卫生习惯调整治疗无效,但在接受四个月的甲硝唑疗程后症状有所改善。