Anyone, what supplements do you take to support cell function and oxidative phosphorylation? The reason I'm asking is because I recently found out there is a genetic researcher nearby who is researching anti-oxidant therapy and glutathione for mitochondrial disorders. I have an appointment with him for my son, in November.
My son has not been diagnosed with a mitochondrial disease, but he had organic acids tests done, by a nutritionist, for suspected nutrient deficiencies. He has 14 abnormalities on these tests, indicating cell dysfunction, significant oxidative stress and glutathione loss. The nutritionist supplied many supplements, based on the test results, to replace his low nutrients, and to help support oxidative phosphorylation - such as CoQ10, N- Acetyl - L-Cysteine, glutathione and other specific amino acids, vitamins and minerals.
I showed these tests to my son's doctors but they have ignored them, and even told me that they do not know how to interpret them. (I'm glad we finally have an appointment with a geneticist!)
My son had a pituitary cyst, which caused severe endocrine hormone deficiencies, but his doctors are reluctant to diagnose any other condition besides the pituitary damage and hormone loss. All of my reading this year leads me to believe that his cell dysfunction and nutrient deficiencies could be the result of severe growth hormone deficiency, but his docs don't know.
He has severe orthostatic intolerance, which has not yet been treated with any medication (although he is on cortisol and thyroid replacement hormones). This problem began 9 months before the surgery to remove the cyst, and did not improve, or worsen after surgery. I believe he has autonomic dysfunction, but his doctors don't all agree. I believe that, like myself, they are hoping his condition improves after he starts growth hormone therapy, but still they say they do not have any other patients with his symptoms (even though OI is not uncommon with adrenal insufficiency).
One doctor recently said she suspects my son may have Ehlers-Danlos Syndrome, due to his hyperflexable joints, but I think he has connective tissue breakdown due to his nutrient deficiencies and growth hormone loss. He also had a high ANA titer of 1280, suggesting an autoimmune disorder, but again, this could just be a reflection of the pathology of severe growth hormone deficiency.
If a genetic cause is found for my son's severe symptoms, I think these supplements will be crucial in helping him regain his mobility and health.
I was hoping all of the recommended supplements would improve my son's symptoms, but he will not take most of them, so I wanted to ask others, with confirmed mitochondrial dysfunction, if your supplements are helping you.
Enzymelover