Special Needs

Neurology Questions

Today we met with the neurologist who told us the results of Grant's spinal tap.  He had quite of few of his amino acids high, the most significant being his alanine.  It was explained to me that alanine measures stress in the brain and can indicate a possible mitochondrial or metabolism disorder/disease.  

I don't know much about mito diseases.  Could someone fill me in?  How are they diagnosed?  How are they treated?  Can a mito disease be only a part of a diagnosis?  Is it tied to genetic disorders (Grant has a duplication on 5p)?

We also found out his MTHF or 5-Methyltetrahydrofolate was low.  He was at a 42 (I'm not sure of the units) and I was told 40-60 is low, while 60+ is acceptable.  In the last 5 years there has been new research that has shown that patients with similar values as Grant have had their neurological symptoms improve following folinic acid therapy.  We were told that there are no harmful side effects to treat him, so we are going to go ahead and do that.  She prescribed 4 different vitamins: Leucororin (folinic acid) 3x a day, Carnitine 3x a day, Riboflavin once a day, and CoQ10 2x a day.  It was nice to have a glimmer of hope that he could make some improvements.  I'm trying to not get my hopes up, but I am glad to have something new to try.  She said that if he improves that it would be in a few weeks.  If he does improve, Grant will be apart of the very small group that is able to find some sort of diagnosis through a spinal tap.  There are only 4 people that she is currently treating for a folinic deficiency (all of which showed an improvement folinic acid therapy).

Has anyone heard about this?  Has anyone had a LO be treated in this manner?

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Re: Neurology Questions

  • You may want to add 'Mito ??' to your post title. I know there are a couple of mito moms on the bump, but i don't think they are frequent enough visitors to be able to find your questions hidden in a neurology themed post title.....


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