Tuesday, March 1, 2011

Carnitine and CoQ10 Study

I started this blog to not only document our fundraising efforts but to think about various research that is taking place and hear what all of you think about it too. Research into PWS is the whole reason behind all of these efforts....we are so hopeful that if we all band together and fund the research that sooner rather than later there will be solutions to at least some of our kids struggles. For me, I would be happy with a cure to the hunger if nothing else - but I will take whatever I can get :)

I saw this article posted today and I read through it - a few times. It took me a few read throughs to feel like I understood the findings (I think). I want to understand everything about my daughter's condition and the best ways to help her but this type of material is not natural for me. Hoping all of you can help add to my understanding.

Does this mean that carnitine and CoQ10 supplements may not have an impact on our kids?

I don't have Ellie on Carnitine or CoQ10 supplements. Do you have your children on them? Do you think it is helpful? How so?

Carnitine deficiency or coenzyme Q10 (CoQ10) deficiency may present with
hypotonia, poor growth, easy fatigability, and apnea. This constellation of
findings can also be seen in individuals with Prader-Willi syndrome (PWS).
Animal studies indicate that increased fat mass due to obesity negatively
correlates with both carnitine and CoQ10 levels in skeletal muscle. Increased
body fat and obesity are characteristic of individuals with PWS. Currently,
there is no documentation of serum carnitine levels, and only one study
investigating plasma CoQ10 levels, in individuals with PWS. Fasting serum
carnitine and plasma CoQ10 levels were measured in 40 individuals with
molecularly confirmed PWS (ages 1-27 years; 19 F/21 M), 11 individuals with
early-onset morbid obesity of unknown etiology (ages 3-13 years; 5 F/6 M), and
35 control siblings from both groups (ages 1-24 years; 19 F/16 M). There were no
significant differences among the three groups in either total carnitine, free
carnitine, or CoQ10 levels. However, individuals with PWS had higher serum
levels of carnitine esters (P = 0.013) and higher ester-to-free
carnitine ratios (P = 0.0096) than controls suggesting a possible
underlying impairment of peripheral carnitine utilization and mitochondrial
energy metabolism in some individuals with PWS. Serum sampling identified no
significant differences in total and free carnitine or CoQ10 levels between
individuals with PWS, obese individuals, and sibling control groups. Muscle
biopsy or measurement in leukocytes or cultured skin fibroblasts could be a
better method to identify abnormalities in carnitine and CoQ10 metabolism in
individuals with PWS than peripheral blood sampling. © 2011 Wiley-Liss, Inc.

Copyright © 2011 Wiley-Liss, Inc.

Here is the link.....



  1. First, to be clear... I have no medical training. Just as you and many others, I have tried to better understand PWS to help my daughter.
    I read this abstract just as you do, that the body is not using effectively what is being produced. IF that is correct, I would be worried that supplementation could do more harm then good. Best to consult your endocrinologist.

    I actually wrote a Blog post related to this in September.
    An important point to consider with any supplementation is that our children are growing and developing. To add to or assist a process that is already functioning, even at a different "normal" in a developing child, could affect future growth and function of that process.

    One more thing I have discovered in trying to better understand things like this, even if it is just a simple understanding. I have found it very useful in communicating with my daughters Endocrinologist and getting more results, tests and answers from him.

    Thanks for sharing.

  2. We dose Lillian's coq10 and carnitine with the help of Dr. Miller - her Endocrinologist. I've noticed major changes when she's gone off of these supplements. Lack of energy, more lathargic, falling asleep at the dinner table, less productive during therapy, zoning out during activities, etc. This is just our experience, but I feel like these two supplements give her the energy that a typical child her age should have. I think having that energy has helped her reach milestones at an earlier rate than what she would have without them.

    (To dose her correctly, we tested her blood levels.)

  3. I don't have Evan on either of these supplements. We did try CoQ10 a while back (want to say around 6 months of age and I didn't notice any change so we stopped). I haven't tried Carnitine b/c his Endocrinologist checked his levels and said he was not deficient. He's general pretty energetic. The only time he isn't is when he's sick. Great idea for a blog, Rachel!!

  4. Thanks Andres!

    I am so glad that there is some research to look at about these supplements. I know alot of families spend a ton of money on them and we are not even sure if they are effective.

    This research seems to suggest that there was not a significant impact on children with PWS taking these supplements versus the control groups. With that said, there are families that swear by them.

  5. On our last visit to Dr. Miller, we talked about how long it seemed to be taking Olivia to eat, after months of positive progress. It was taking over an hour for her to eat at the time. She tested carnitine levels, but also told us before she even tested that she suspected deficiency and wrote a prescription. She began taking it immediately and I noticed an improvement within 48 hours (and that's being generous) in her energy levels.

  6. So there is a connection between carnitine levels and the amount of time it takes her to eat? Ellie take FOREVER to eat. Could this be because of Carnitine levels? Interesting that Dr. Miller wrote the script - the research findings dont seem to show a 'real'connection.

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  8. Our son Aedan just turned 2 and also from advice from Dr. Miller (UFL) began CoQ10 a few weeks ago. We had also seen conflicting reports, so we decided to speak to Dr. Miller on the subject. She was so helpful and really left the decision up to us.

    Aedan takes it with an Omega-3 supplement from Coromega. It is a gel that tastes like Oranges, he loves it.

    Aedan has always worked so hard through his therapies, sweating after only a few stairs. While I can't say if it is the CoQ10 directly or just increase in muscle tone due to the therapies, he is more active every day and much less fatigued. We are waiting to begin Carnitine, but were also given the go ahead from Dr. Miller, she said to try it for 2 weeks and if no changes are seen to stop. She said it can't hurt.

    Like most I have no medical training, just a mom who is learning as she goes!

  9. Hi, Our daughter Jessica was born on the 12th May 2011 and was diagnosed with PWS in late July,

    If anyone can offer us any advice in regards to treatments that would be great , We have an appointment to see an endocrinologist on the 12th of October and at this point we are going to ask about HGH, we are in the UK and we believe there are only 30-35 cases of PWS each year diagnosed here,

    Obviously at this time we are still going through some difficult times so any help with factual information would be greatly received, anything we can take with us to the appointment would be ideal.

    Kind regards


    (repost but I needed to see if I can get a little help)