------------------------------------------------------------------- Fish-Odor Syndrome Gene Found ------------------------------------------------------------------- NEW YORK (Reuters) -- Scientists have found the genetic mutation responsible for fish-odor syndrome, a rare condition which causes individuals to emit an odor similar to rotting fish. British biochemist, Dr. Ian Phillips of the University of London, believes that until now, the public and the medical community may not have "understood there was a medical disease underlying some of these smelly disorders." Fish-odor syndrome -- properly known as 'primary trimethylaminuria' -- is caused by an excessive bodily emission of the compound trimethylamine (TMA). TMA is a natural byproduct of the digestion of choline-rich foods, such as saltwater fish, eggs, and liver. Phillips is senior author of a study into the origins of the syndrome, published in the current issue of the journal Nature Genetics. He says British statistics put the incidence of the condition in that country at 1 in 25,000 individuals. Incidence can vary with ethnicity -- however, the populations of Ecuador and Papua New Guinea have especially high rates for the disease. Those suffering from fish-odor syndrome often experience painful social ridicule and isolation. Social ostracism due to offensive body odor "leads to feelings of rejection, difficulty in establishing normal social relations with individuals and the community, (and) problems at school," Phillips said. Depression and suicide are not uncommon. Phillips and his team of researchers were intrigued by recent studies suggesting that the disease might be inherited. He explained that TMA is normally metabolized by a specific enzyme called flavin-containing mono-oxygenase 3 (FMO3). But Phillips and his colleagues discovered that individuals suffering from fish-odor syndrome carry a genetic mutation which prompts the production of a defective enzyme, unable to properly metabolize TMA. Phillips cautions that his findings don't promise any immediate 'cure' for the condition. However, he says it may offer the "hope" of a genetic or enzyme-based therapy "at some stage in the future." For now, some of those suffering from fish-odor syndrome may be helped by diets restricted in choline-rich foods. But Phillips admits that "in the most severely affected, this sort of treatment doesn't seem to help very much." Still, he believes that the knowledge that their syndrome has a specific genetic base provides patients with "some small degree of comfort." He hopes physicians get the message, as well. In the past, Phillips says, many general practitioners presented with the problem "would just think it was a problem of personal hygiene." By E.J. Mundell SOURCE: Nature Genetics (1997;17:491-494) 1997, Reuters Health eLine] http://www.medscape.com/reuters/thu/t1203-5f.html ------------------------------------------------------------------- janet [log in to unmask]