Findings found that the use of “fecal/sewage” as a description, and the use of multiple descriptors of the smell, and incorrect locations of smell origin effectively differentiated ORS from TMAU. In the literature on body odour identification, emphasis is frequently placed on multiple consultations to reduce the risk of misdiagnosis, and also asking the individual to have a reliable confidant accompany them to the consultation who can confirm the reality of the reported symptom. ORS patients are unable to provide such confidants as they have no objective odor.A fecal smell (fecal body odour) is often a self reported symptom associated with TMAU, however there is no recorded evidence of fecal body odour present in any study related to TMAU. Cashman JR found that 53% of TMAU and 59% of non-TMAU subjects suffered from regular halitosis, dental plaque on the back of the tongue, which produced on average "200-600 ppb of sulfurous/fecal smelling volatile sulfur compounds (i.e., VSC: hydrogen sulfide; methylmercaptan; dimethylsulfide) with each exhalation, creating a “malodorous cloud” in their vicinity. It is likely that halitosis, ORS or in severe cases, a bowel obstruction leading to fecal vomiting may be the cause. There is the possibility that someone may suffer from both Trimethylaminuria and ORS-like paranoia, due to the potential lack of ability to smell the odour oneself and the worry that it generates. It is recommended to organise reliable confidants, colleagues, friends or relatives ("smell buddies") to work with the sufferer to discretely inform them if they are presenting an odour.
Research
CFTR mutations that are responsive to elexacaftor/tezacaftor/ivacaftor were determined by an in-vitro study of Fischer Rat Thyroid (FRT) cells that expressed mutant CFTR. Elexacaftor/tezacaftor/ivacaftor showed effectiveness with mutations where the CFTR protein was being successfully delivered to the cell surface. References
External links
"Elexacaftor". Drug Information Portal. U.S. National Library of Medicine. "Ivacaftor regimen with Tezacaftor". Drug Information Portal. U.S. National Library of Medicine.