Fw: mito workup - (long)

[Guest guest]

Hi, listmates -

I sent the body of this message to Dr. Kelley and Dr. Kahler, but I thought that you guys might be interested as well. I was very disappointed with this doc 2 weeks ago, but he seems to be willing to learn, so I have to be patient and give him a chance.

Dear Dr. Kelley and Dr. Kahler -

Dr. Wong called today with 's lab results. His metabolic panel was normal except for the glucose of 31 (which we repeated and which was normal on the repeat). His lactate was normal at 1.1. His CK was normal. His plasma amino acids were normal, and there was no evidence of elevations in the mitochondrial cycle on his urine organic acids. I asked if his labs might be normal if he was being treated with the mito cocktail, and he said yes (although he still thinks that most people are non-responders, but he believes to be a responder). That leaves us with very low serum Carnitine profile, other family members with Carnitine deficiency and suspicious medical histories in , siblings and mom. He does think that could have a Carnitine protein transport deficiency, but still doubts that he has a mito disorder.

He suggested 2 approaches. The first would be to stop 's mito cocktail for a while, allow him to become deficient, then measure plasma Carnitine profile, 24 hour urine Carnitine and do a skin biopsy, to assess Carnitine transport. He was not comfortable doing this, because he was afraid that would fall apart. (I agree!)

The second would be to skip right to the skin biopsy for fibroblast culture, to look at Carnitine and fatty acid metabolism in the cells. I asked if he would send the tissue for mitochondrial disorder assessment as well, since we were already talking about doing a procedure on and would be obtaining tissue, and I wanted to maximize the yield. He agreed (but I needed to persuade him rather strongly). The genetics counselors will be contacting me to set this up after he has worked out exactly where to send the specimens and how to handle them.

What are your opinions? I know that Steve will be leaving soon, and I really appreciate any advice that you have for me. One question that I have is whether supplementation with the mito cocktail will also normalize a child's pathology results, especially in a child who has had a dramatically positive result to such supplementation. We saw immediate positive results to the use of Carnitor, omega-3 essential fatty acids and CoEnzyme Q10, all of which would support pathology in Carnitine metabolism - but will they also reverse it so that a tissue diagnosis can't be made?

Also, was seen at the Ketogenic Diet Clinic for her routine yearly followup. Dr. Freeman and Dr. stein are interested in adding the rest of the mito cocktail to her existing Carnitor and ketogenic diet, to see whether she would have any benefit. What do you think?

I know that labwork done at Hopkins is very highly regarded. I recently had labwork done on at Metametrix lab in Atlanta, GA for nutritional reasons, to guide his supplementation. This lab looks at results with a view to optimizing nutrition, more so than diagnosing pathology. The results were abnormal, and interesting. These were done with fully supplemented. (You can stop reading now if you want to!) His urine organic acid testing showed elevations in many of his citric acid cycle metabolites - extremely high for cis-aconitate (double normal) and succinate (over 4x normal), moderately high for isocitrate and borderline for malate and alpha-ketoglutarate.. For fatty acid metabolism, his adipate and suberate were moderately elevated. For carbohydrate metabolism, his beta-hydoxybutyrate was very high (more than double). For oxphos, his hydorxymethylglutarate was extremely elevated (4x normal). The recommendations are for the elements of the mito cocktail - B complex, especially B2, Carnitine, CoQ10 (other abnormalities called for more antioxidants), and more amino acids (his were uniformly low) and magnesium. 's CoQ10 was high (1.7 with a range of 0.8 - 1.5), but they still recommended additional supplementation both because of his other markers and because they are unable to measure intracellular CoQ10, which they believe is more important. His plasma fatty acids showed an Alpha Linoleic acid of 152 (normal 15 - 50) and an Eicosapentaenoic acid of 13 ( normal 20 - 80), so there must be some blockage in the metabolism of ALA to EPA. 's neurotransmitter metabolism markers were all high, except for HVA, and his serum GABA was high (still thinking about these). They recommended even more B6 than he is already on, which is a lot - 162.5mg of P-5-P and 270mg of Pyridoxine HCl, and more Zinc (already on 66mg per day). Some of the markers were indicative of chronic blood sugar instability - interesting with that serum glucose of 31.

Kathy

[Guest guest]

Kathy

boy your situation sounds fairly similar to ours starting out. I dont' how old is or how long he has been sick, but its sounds quite similar.

My NEVER had ANY lab test to point to mito! was almost exclusively affected neurologically. He never had any of the early indicators show up on lab tests. Except for elevated CPKs, which really has nothign to say about Mito. His CoQ and Carnitor were always normal too.

However, when we got FRESH muscle biopsy done by Shoffner...his diagnosis was Complex I and IV with CoQ transport problems in I+III and II+III even though his CoQ levels were fine. I highly reccomend getting the skin bx at the same time and going straight for fresh, but that's my thinking.

You have to keep in mind that what what the general dr population was taught on mito took only minutes of class time and if they are older was probably only about MELAS, MERFF and Leighs.

Most doctors dont' think they will ever see Mito in thier career, yet drs who are mito-friendly will tell you it is likely way underdiagnosed.

never responded to the cocktail...well maybe the first two weeks but not after that. He did great on Carnitor though. However, our local metabolicist thought it was ridiculous for him to be on it without having a Carnitine deficiency. Most drs think the cocktail is a waste of time. Many of our local docs felt treating at all was just a big waste of time! UUUGGGHHH!!!!

Someone else will know better than me, but I don't believe it affects the results much if at all, if you are on the cocktail when tested. Lots of kids are on it when they get general labs like that.

You just have to stick with your gut and go for it! I would really push for a fresh bx because it would give you the best possible info. (although sometimes it shows nothing).

deb...mom to three great adopted kids... (07.04.96-05.26.03) with Mitochondrial Disease, Gaige age 5 with High Functioning Autism & dysfluency and Bliss age 3 with very very mild Cerebral Palsy. www.LifeofLoveProject.orgwww.HeartLiftersGallery.com