A new TMAU paper by Prof/Dr Eileen Treacy et al at Dublin Adult Metabolic Unit.
Its a follow up to a 'stat' paper they did last year (stat papers are very useful, especially if DNA tested).
The unit has a TMAU Support Group (which no other Adult Unit worldwide seems to have).
From this, they first did a paper on results (biochemical and FMO3 gene).
Now they have selected 6 of those 20 people to ask about their mental health.
Impact of trimethylaminuria on daily psychosocial functioning
Daniel Roddy| Philomena McCarthy| Darragh Nerney| Jennifer Mulligan-Rabbitt| Edwin Smith| Eileen P. Treacy
National Centre for Inherited MetabolicDisorders, The Mater Misericordiae University Hospital, Dublin, Ireland
Quotes from paper ...
We have recently reported the biochemical and genetic characteristics of 13 Irish adult patients with TMAU attending the main Irish Reference Center. Research on the behavioral and psychosocial aspects of this condition is limited. This study explores the patients' perspec-tives of living with TMAU in Ireland
The results suggest that the participants experienced a negative journey to diagnosis. Fear, anxiety, paranoia, and dysfunctional thinking are a constant struggle. Participants reported using avoidant coping mechanisms and strategic planning to navigate daily life.
ID | Initial diagnostic urinary TMA level (at presentation) (μmol/mmol creat)a | Most recent TMA level (μmol/mmol creat)b | Genotype |
---|
1 | 20.7 | 0.6 | N/A |
2 | 12.1 | <2.5 | No pathogenic variant detected |
3 | 24.8 | 40.3 | Compound heterozygous for c.458C>T,p.(Pro153Leu) and c.682G>A,p.(Gly228Ser) |
4 | 25.4 | 0.6 | Heterozygous for c.472G>A,p.(Glu158Lys) and c.932A>G,p.(Glu308Gly) |
5 | 11.8 | 14.4 | Compound heterozygous for c.458C>T,p.(Pro153Leu) and c.694G>T,p.(Asp232Tyr) |
6 | 35.2 | 30.1 | Compound heterozygous for c.458C>T,p.(Pro153Leu) and c.989G>A,p.(Gly330Glu) |
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side-note (opinion) :
The first study used 'Nigel's' old TMAU urine test method at Sheffield, which seemed to roughly match the numbers of people on TMAU forums to a degree.
This new study used the NEW SHEFFIELD TEST METHOD, which doesn't seem to match forums (far far less 'positives') and seems to only spot 'severe' cases. The new method is similar or same to most/all other worldwide clinical TMAU test labs.
In summary, it seems to miss 'the grays' now.
Some would argue TMA is the wrong biomarker for 'FMO3 Malodor'.
Or more biomarkers should be added (FMO3 Sulfides).
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