DWQA QuestionsCategory: QuestionsAdult FOAD, rhabdo and mitochondria results
Roger asked 3 years ago
After having frequent bouts of rhabdo, and seeing many confused doctors, I found a physician who steered me on a mitochondrial path.  I was able to take a Mitoswab test and the results found some abnormalities in the RC-1 complex.  I believe that I have FAOD, and have since tried the low fat, high carb diet and the rhabdo is less painful and fewer in frequency.  I have a few questions that I hope you can help with:

  1. I am 46 and most of the mito specialists in my area deal only with children and are hard to get into.  What area of medicine does FAOD fall under? 
  2. What specific mitochondrial changes are seen in FAODs?
  3. Are you familiar with fluoroquinolones causing mitochondrial toxicity?  I believe this is what happened in my case, as DNA tests all came up normal.

I apologize if these questions are too specific or have been answered already.  I am having a very difficult time with diagnosis and treatment, most of my doctors don’t know what you are talking about when you bring up mitochondria.  And all this time having several bouts of rhabdo makes it very difficult.  Thanks!

1 Answers
INFORM Physician answered 3 years ago
The broad scope of mitochondrial energy metabolism encompasses three major biochemical pathways located in the mitochondria: fatty acid oxidation, the tricarboxylic acid cycle, and oxidative phosphorylation. The first two pathways produce the raw material for the last that turns them into ATP, the chemical fuel that powers cells. Fatty acid oxidation disorders are readily identified by biochemical and genetic testing, usually performed by medical geneticists, but sometimes other specialists such as neurologists and hepatologists. Disorders of oxidative phosphorylation (often called somewhat inappropriately “mitochondrial disease”) are more difficult to diagnose, and are often ultimately defined on clinical criteria alone. Defects in all can cause rhabdomyolysis, though they are far more common in the fatty acid oxidation disorders. There are indeed many compounds that have been demonstrated to have mitochondrial toxicity and adversely affect energy metabolism, but it is very difficult to prove that they are playing a role in disease many months or years after a suspected exposure. You should also know that other genetic muscle diseases not related to mitochondria can cause rhabdomyolysis and will need to be considered. Medical Genetics is not an age limited specialist and you might start by contacting one for an evaluation. They are most typically located at major medical centers, usually University affiliated. Alternative, an adult neurologist might also be able to help start an evaluation. Hope this helps. Dr. Vockley