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Rotting fish woman diagnosed with genetic condition

A woman who smells of rotting fish has been diagnosed with a rare genetic condition after 30 years of being dismissed as a hypochondriac.

The 41-year-old suffered decades of bullying and low self-esteem because of her pungent odour, but doctors refused to take her complaints seriously, believing she was a hygiene neurotic.

She has now been diagnosed with trimethylaminuria, a genetic condition that affects the smell of sweat, breath and urine.

The condition – also known as fish malodour syndrome – is incurable, but the patient from Perth, Australia has been able to seek counselling and support from fellow sufferers.

Professor John Burnett, head of pharmacology at the University of Western Australia, said that the case was a warning to doctors not to dismiss conditions that appear minor but have a great impact on the psychological health of patients.

"After experiencing ridicule, distress, shame, anxiety and low self esteem during her school years, she first consulted a doctor about the problem at the age of 17, then again two years later, followed by a further four doctors over the next 20 years," he wrote in the Medical Journal of Australia.

"Now having a name for her condition she found an internet-based support foundation and referred herself for genetic counselling," he added.

Trimethylaminuria is a genetic mutation that causes the body to produce too much trimethylamine, a compound found in fish. Particular foods, medication and hormones can exacerbate the condition.

Patients "experience shame and embarrassment" and "fail to maintain relationships", Prof Burnett said.



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