mariovitali
Senior Member (Voting Rights)
I wanted to start a thread that is looking to potential information after I came across a PDF which I will link below. I do not know if -looking at the associations below- it is warranted that patients are screened for such conditions. Recall that @Chris Ponting study identified "Liver disease" as a condition.
Link : https://www.iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf
The PDF has several entries related to nitrogen metabolism, Porphyria, Hemochromatosis, Wilson disease, Carnitine Palmitoyltransferase deficiency and many others. I provide several examples below. @ME/CFS Science Blog what do you think ? This could be a tool for diagnosis or helping in differential diagnosis ?
1. From the PDF : Nitrogen metabolism is being looked by @MelbME and the OMF.
2. Hemochromatosis was mentioned on the HFE gene listed in the GWAS study. There are cases of patients who also found they have Wilson's disease (mentioned in forums).
3. We then have Porphyria, note the Hemin entry below :
and relevant post from MEAssociation (note that Porphyria is mentioned) :
4. Finally Carnitine Palmitoyltransferase deficiency :
and
Link : https://www.iembase.org/gamuts/store/docs/Liver_disorders_in_inherited_metabolic_disorders.pdf
The PDF has several entries related to nitrogen metabolism, Porphyria, Hemochromatosis, Wilson disease, Carnitine Palmitoyltransferase deficiency and many others. I provide several examples below. @ME/CFS Science Blog what do you think ? This could be a tool for diagnosis or helping in differential diagnosis ?
1. From the PDF : Nitrogen metabolism is being looked by @MelbME and the OMF.
2. Hemochromatosis was mentioned on the HFE gene listed in the GWAS study. There are cases of patients who also found they have Wilson's disease (mentioned in forums).
3. We then have Porphyria, note the Hemin entry below :
and relevant post from MEAssociation (note that Porphyria is mentioned) :
4. Finally Carnitine Palmitoyltransferase deficiency :
and