What's that smell?: Modern science puts its mark on a rare but ancient body‐odor disease

Abstract

S hakespeare's description of the socially rejected island dweller, Caliban, aptly demonstrates that people have long been aware of a particularly offensive smell. Today, body odors are among the most sensitive of topics and figure into some of the deadliest insults. Inspired by advertising, most people avoid having a socially unacceptable smell thanks to frequent showers and deodorants, perfumes, or colognes. However, for people with a rare genetic disorder known as fish odor syndrome, none of these is enough. Since few health professionals are aware of this disease, also called trimethylaminuria, people experiencing its characteristic body odor may spend years seeking relief. They often acquire a long list of inaccurate diagnoses, ranging from poor hygiene to psychiatric problems. These people may withdraw from the outside world to avoid ridicule or try to mask their odor with strong perfumes and cigarettes. Many of those with the disorder also report symptoms of depression. People think this disease is a laughing matter, but for the people who have it, it is not. This syndrome can be highly destructive to a person's personal and social life and to their work and career, says Robert L. Smith, a molecular toxicologist at the Imperial College School of Medicine in London who recently cochaired the first-ever scientific meeting on trimethylaminuria. Held in late March at the National Institutes of Health in Bethesda, Md., the conference gathered from around the globe about 30 researchers studying trimethylaminuriamany of them without funding-and a few of the people who have been diagnosed with the disorder.