To celebrate Rare Disease Day, we’re writing about our research into rare diseases at Guy’s and St Thomas’. We’ve also written about our work on hyperemesis gravidarum – severe morning sickness.

Here, Ania Rainbird speaks to Krzysztof Rutkowski, a Senior Research Nurse at our NIHR Clinical Research Facility about his work on the condition trimethylaminuria.

Krzysztof Rutkowski, a research nurse, looking through files

Trimethylaminuria, also referred to as fish odour syndrome, is a rare metabolic condition. It causes patients to excrete a foul odour like the smell of rotting fish, faeces or garbage.

For patients with the condition, it can have a significant effect on psychological and social well-being. Because it is rare, doctors treating the condition may not be so familiar with it, and there is not as much information available to them as with other, more common conditions.

One of our research nurses, Krzysztof Rutkowski, has just led a research study that could help doctors and patients know what questions to ask and what to look out for when treating patients with the condition.

The new study, published in the Journal of Inherited Metabolic Disorders, highlights an assessment tool which may, subject to further research and evaluation, serve as a prompt for questioning for clinicians diagnosing and treating patients with Trimethylaminuria.

Current treatments for Trimethylaminuria include antibiotics, laxatives, riboflavin, charcoal, copper chlorophyllin, shampoos and soaps with a pH between 5.5 – 6.5. There is no cure, and the only measure of treatment efficacy is levels of trimethylamine (TMA) – the substance that causes the smell – in patients’ urine. This does not always reflect the patient’s experience of symptoms.

The aim of this study was to develop an assessment tool to provide a quantitative measure of treatment efficacy in patients diagnosed with Trimethylaminuria before and after treatment, and assess its acceptability to people living with the condition.

Krzysztof Rutkowski, Senior Research Nurse at our NIHR Clinical Research Facility, and the lead author of the study said:

“As a research nurse I am delighted that I have been able to lead this research. While further development is needed to test for the validity and reliability of the assessment tool, I hope it can serve as a useful discussion prompt between clinicians and patients when diagnosing and treating Trimethylaminuria.”

Read the full paper online.