WHAT’S THAT FISHY SMELL? Trimethylaminuria was first discovered in 1970 by J.R. Humbert. It was found in a six-year-old girl with multiple pulmonary infections. A deficiency of trimethylamine-oxidase was shown in a liver biopsy. The mutated gene, which is responsible for the disease, was only recently identified by C.T. Dolphin in 1997 as the gene that codes for the enzyme flavin monooxygenase 3. In a normal person, dietary choline and trimethylamine-oxide are ingested and broken …showed first 75 words of 752 total…

…showed last 75 words of 752 total…and actually worsened their odor (Christensen 317). People that have this dreaded and unheard of disease aren't really looking for a cure any more. Their major concern is that they want answers to their questions and information about their disorder. "The ignorance and confusion surrounding trimethylaminuria are perhaps the most devastating parts of the disease. It's absolutely essential to get the word out. We have a potentially treatable disorder that is grossly underdiagnosed" (Harry W. McConnell).