Okay all you smart mamas, I am having a bit of an identity crisis. We heard from the mito doc we saw in Seattle in April that they may have found a genetic reason which is contributory to R's issues. Dr. wanted three additional lab tests. I thought nothing of it until the urine test was one that no one here locally had heard of, so I googled it. They are ruling out/confirming sulfite oxidase deficiency from what I can best gather. They are doing a urine sulfite test and that dx is the only one that comes up when I google the test.
There is not too much info on it, but it is called an inborn error of metabolism even though the deficiency is in the mitochondria and it affects what happens just before the electron transport chain. What is the differentiation? If this is the official diagnosis and it happens in the mitochondria, why is it not still mito? I know it is a stupid, nit picky question' but we have been functioning under "mito" for 4 years.
Thanks for any clarification.
There is not too much info on it, but it is called an inborn error of metabolism even though the deficiency is in the mitochondria and it affects what happens just before the electron transport chain. What is the differentiation? If this is the official diagnosis and it happens in the mitochondria, why is it not still mito? I know it is a stupid, nit picky question' but we have been functioning under "mito" for 4 years.
Thanks for any clarification.
