CSF aminoacids in seizure -glycine link?

[vekasuiv]

Hello,
I recently discovered that my daughter has disturbed aminoacids in CSF. She has seizures triggered probably by hyperventilation-apnea. There are high glycine, proline, ornithine and glutamate. I found out that glycine, proline and ornithine could be related to hyperventilation. She was diagnosed Lennox-Gastaut. She also had low blood bicarbonate, increased lactate and pyruvate.
When she was baby and had West syndrome, glycine was also present.
Did anyone had similar findings and what helped?
We tried: increased valproate, vigabatrin, corticosteroids, and recently rufinamide. Nothing helped
Anyone tried dexamethorphane?
Medical cannabis perhaps?

Thanks
Suzana

 

[Nakamova]

Hi Suzana --

Did the Valproate make her seizures worse? That can happen sometimes if there's a suspected genetic component to the high glycine levels in the CSF. From what I've read, there may be some improvement using sodium benzoate if her seizures are considered hyperglycinemic. See: https://www.ncbi.nlm.nih.gov/pubmed/3706242 and https://www.ncbi.nlm.nih.gov/pubmed/10682305

Some L-G seizures also respond to pyroxidine (B6), alone or combination with the other B vitamins, plus C, E, coenzyme Q10 and L-carnitine.

You might also want consider the ketogenic diet if you haven't already. One of our members, Dutch Mom, found the diet helped he som become free of AEDs. Her profile is here: http://www.coping-with-epilepsy.com/forums/members/dutch-mom/ and you could try pm-ing her for more info.

 

[vekasuiv]

Thanks.
I do not know what to say about valproate. I really didn't see much when increasing or decreasing dose. Perhaps the rest of supplements/drugs are interfering with this. I will see dr for metabolism next week to discuss possibility to have transient form of hyperglycinemia, and what to do, and geneticist to check extra genes she has.

Actually, her seizures started when she was on cod liver oil, vitamin D, E, C, q10, taurine, acetyl-carnitine, carnosine, chelation with ALA, multiminerals, benfotiamine, magnesium and calcium citrate and a day after I started B6 and stopped olive leaf extract, and during chelation with ALA, 10 days after mild GIT infection and about 10 days without milk. All preceded a month of violent hyperventilation but without seizures - she was not herself. At those times I didn't added the rest of B-vitamins. When seizures started, I excluded everything she used but condition was not better. She was also on the way to develop megaloblastic anemia. So I gradually added B12, folc acid, the rest of Bs except B6 then gradually acetyl-carnitine, benfotiamine, taurine, K2, Mg and Ca but different forms; it turned out that citrate form was BAD for her. I am still in search for right form. We tried high dose pyridoxine B6 trial - no changes in EEG.
Ketogenic diet is contraindicated in persons with high lactate and low bicarbonate - both se has. Even neurologist sad no-no.

I do not have any idea what to try. My experience is that drs will not help my girl.

Suzana

 

[Nakamova]

If calcium is problematic, has she been tested for genetic calcium issues? If so, then perhaps a calcium-blocker like Verapimil would work for her. Check out this story: http://www.cureepilepsy.org/news/story.asp?id=97

I wish you the best of luck, it's very tough when seizures are refractory.

 

[vekasuiv]

Thank you for very useful information!
She was not tested for calcium issues. We are somehow struggling with this calcium. She had normal blood total calcium level, but low ionic calcium and PTH at lowest normal values. Bones are osteoporotic, 74% of normal values. When she hyperventilates, she is causing hypocalcaemia which triggered some of seizures. I always paired calcium with magnesium due to constipation which worsened on calcium, so probably I couldn't see the real effect of calcium. I remember once adding calcium carbonate without magnesium and both of my girls acted so strange, like it was driving them mad. I noticed but didn't really paid attention because they are very unstable and I thought it is a phase.

Problem with citrate was probably following: as she already had mild, compensated blood acidosis (anion gap), adding citrate as acid worsened condition, and because she has a lot of Citrobacter freudii in the gut, they got happily mad on such food source. So she had "acetone breath" (no hypoglycemia, no increased ketones) which make me dizzy just when smelled her breath. When I excluded all citrate forms and added B vitamins to fight acidosis, acetone breath disappeared.
So I solved two things at this point: normalized bicarbonate level in blood and reversed megaloblastic anemia with B12 and folic acid. But I didn't solved mystery of seizures.
I am so desperate because I had done it all by myself, with no help from drs at all. OK, I am lying - they actually ordered tests but didn't know what to do with results. They were looking at those data repeatedly for a year, and didn't do anything because it was not "severe enough".
Thanks