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Abstract Metabolic myopathies are among the treatable causes of rhabdomyolysis and myoglobinuria. Carnitine palmitoyl transferase 2 (CPT II) deficiency is one of the most common causes of recurrent myoglobinuria in adults. It is an inherited disorder of fatty acid oxidation pathway, commonly...

Abstract Carnitine palmitoyltransferase (CPT) catalyzes the transfer of long- and medium-chain fatty acids from cytoplasm into mitochondria, where oxidation of fatty acids takes place. Deficiency of CPT enzyme is associated with rare diseases of fatty acid metabolism. CPT is present in two...

I used sequencing.com, a USA based testing service, from Canada They produce a some standard reports. One shows problematic genes. Another shows more benign ones. After a while I took screenshots of the reports and asked an AI to help explain. In my case there were no "zingers" but the...

I tried to keep most of the medical details brief. My argument for the heterozygous individuals is that they have adapted their lives in ways they don't realize. At the same time, that leaves them appropriately 50% deficient so there is a constant struggle. Since they operate with less, during...

Disclaimer: This is a personal story. I don’t have a medical background and all the views are mine. I have spent much of the past 15 years becoming increasingly horizontal. During that time I’ve been actively following ME/CFS, including the research presented in this forum. While I have had...

There are adult onset muscle diseases which have similar presentations to PEM. For the last 10+ years I've been quietly slid into the ME/CFS bin because I spend so much time horizontal. The oddity for me has been that my version of "pacing" has consisted of half hour walk, lie down to gain...

I'll speak from my experience about how medical testing occurs here. GP's are unattainable for most. Specialists have months or years long waiting lists. Any doctor I do get to see looks for the shortest exit, so if a syndrome says muscle pain then they prescribe for muscle pain. If you're...

Every time I've pointed out my plentiful calf fasciculations a doctor has described them as "benign". My personal dictionary entry for "benign" is located close to "gaslighting".

There is a strong link between autism and autoimmunity. See Naviaux, Dr Chris Armstrong, cell danger response.

Abstract Skeletal muscle requires a large increase in its ATP production to meet the energy needs of exercise. Normally, most of this increase in ATP is supplied by the aerobic process of oxidative phosphorylation. The main defects in muscle metabolism that interfere with production of ATP are...

Big oops or Eureka? I'm a Comp Sci guy. Most of my career has revolved around learning new technologies, particularly in their infancy. I tend to be very aware of their uses and limitations as they evolve. In the last six months I've been using an AI to surface interesting medical research...

AI's can very very good at reading large amounts of data. That said, the old rule of garbage in garbage out still applies. A lot of medical research tends to report their results in favor who paid for the research. For instance, a lot of cannabis research comes from the "find why cannabis is...

Abstract AMP deaminase (AMPD) deficiency is an inherited disorder of skeletal muscle found in ∼2% of the Caucasian population. Although most AMPD-deficient individuals are asymptomatic, a small subset has exercise-related cramping and pain without any other identifiable neuromuscular...

This is for the metformin folks since GLUT4 is often mentioned in association with it. The brain fog people might also be interested. GLUT4 is described as the "turbocharger" for when the brain is most active.

This is the author version of the manuscript. The journal version is paywalled https://pmc.ncbi.nlm.nih.gov/articles/PMC6936336/ Abstract Insulin is now well-established as playing multiple roles within the brain, and specifically as regulating hippocampal cognitive processes and...

For a long time I slept in "Superman flying pose". Any pressure at all caused tingling after about 5 minutes, so that was the pose with the least pressure anywhere. Even the hands had to be flat. In the improved better days I could sleep on my side, but often there I kept having a sense of...

https://pmc.ncbi.nlm.nih.gov/articles/PMC4477257/ "The human cytochrome P450 enzymes (P450s) catalyze oxidative reactions of a broad spectrum of substrates and play a critical role in the metabolism of xenobiotics, such as drugs and dietary compounds. CYP3A4 is known to be the main enzyme...

https://pmc.ncbi.nlm.nih.gov/articles/PMC11625447/ Abstract CYP3A, a key member of the cytochrome P450 (CYP450) superfamily, is integral to drug metabolism, processing a substantial portion of medications. Their role in drug metabolism is particularly prominent, as CYP3A4 and CYP3A5...

Most notably, CYP3A4 is downregulated by IL-6. I have seen several papers about this, mostly due to COVID specifically, but it happens with other viruses as well I'm trying to find the correct path with this one. I'm a lay person, not a doctor and certainly not an authoritative reference . My...

I can state it a more broad way. Chronic inflammatory states can impact bile acid metabolism. And generally I always consider the converse to have some truth.