Abstract Inborn errors of metabolism have traditionally been viewed as the quintessential single gene disorders; defects in one gene leads to...
In this study, the authors reported that "those with ME/CFS have fewer mildly deleterious [mitochondrial DNA] variants than controls". One of the...
https://bcmj.org/articles/mitochondrial-disease-clinical-manifestations-overview This has some comments on adult-onset mitochondrial disease...
If one were to measure the harm and costs caused by neglecting sick people at the level of whole society, it might end up costing more than what...
We have used mice with inborn errors of mitochondrial fatty acid beta-oxidation to test the concept of synergistic heterozygosity. We postulated...
Inborn errors of metabolism show considerable variation in the severity of symptoms. This is often ascribed to the differential effects of...
I bought a month of access to an online tool that can do "gene panels". It is called gene.iobio
Small update on the fatty acid oxidation mutation. After applying a healthy dose of skepticism and doing some research, I think this a genuine...
I also have a "likely pathogenic" variant expected to cause a nonfunctional protein in a gene involved in fatty acid oxidation, for which no...
I have access to my own raw data and am looking through it slowly. One of the interesting findings so far is a series of mutations in the...
It was similar for me. I didn't have as much contact with the healthcare system early on due to a slow and insidious illness onset but still...
Sounds great. The patients are expected to need treatment every 10 years or so (nobody knows for sure). So quite not a cure, more like a really...
I can see the validity of both arguments here. There are some ugly and rarely opened expressed prejudices ingrained in the medical and research...
Maybe it's more that they must invent new reasons for their own professional existence? As far as I'm concerned the ancient Greeks had human...
I have this now. My brain feels chronically undersupplied with blood, and spending time upright makes it worse. While lying down it's not a strong...
Worse than I imagined.
I have a feeling that this LP study could go badly due to recruitment process. If I understood right the patients will be referred by the...
I clearly remember that Ron Davis some years ago said they were seeing high levels of lipids in cells in one of the experiments they did. Maybe in...
Is the peroxysomal dysfunction sufficient to cause accumulation of certain fatty acids? If yes, that would make reduction of fat intake or some...
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