Carnitine palmitoyltransferase 2 deficiency - About the Disease - Genetic and Rare Diseases Information CenterFind symptoms and other information about Carnitine palmitoyltransferase 2 deficiency.rarediseases.info.nih.gov
"Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death.
The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet. "
I don't recall rust-coloured urine at any point with this and I would say that most of my episodes happen at times I'm very well fed rather than any fasted state (holidays, etc). So, I don't think this explains my issue but it could be a related thing for sure.
I agree that it's not an exact correlation as we all tend to experience an episode after a period of rest and not during exercise, AND during a fed state. That said, in my case, I had my first recent, acute episode on the 27th, after 48 hours off the bike and overeating carbs and treats and well, everything. I was feeling a bit better by the 31st and started a 5 day water fast (i like to do this once per year in off-season). The 'attacks' have been the worst I've experienced and triggered by the most simple movement (walking slowly more than 5 0 - 100 steps. It's definitely been the worst I've experienced in over a decade of dealing with this. I'm still in a fasted state at the moment but MAY end the fast later today if I'm convinced it will help.
Goal is to just keep chipping away and sharing results on here so we can all just get on with it.
I just ordered a fat bike yesterday for crying out loud!