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A rare deficiency cfs/fm patients should consider

Discussion in 'Diagnostic Guidelines and Laboratory Testing' started by Ambrosia_angel, Jan 29, 2014.

  1. Ambrosia_angel

    Ambrosia_angel Senior Member

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    Carnitine palmitoyltransferase II deficiency (CPT-II) is a metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.

    Presentation in adult patients - This exclusively myopathic form is the most prevalent and least severe phenotypic presentation of this disorder. Characteristic symptoms include rhabdomyolysis (breakdown of muscle fibers and subsequent release of myoglobin), myoglobinuria, recurrent myalgia (muscle pain) and weakness. It is important to note that muscle weakness and pain typically resolves within hours to days, and patients appear clinically normal in the intervening periods between attacks. Symptoms are most often exercise-induced, but fasting, a high-fat diet, exposure to cold temperature, or infection (especially febrile illness) can also provoke this metabolic myopathy.

    To put it simple most symptoms occur after exercise, so maybe a few hours after and usually a patient recovers after rest. Pain, stiffness (symptoms of fibro) may be an indication there is an undetected problem. Btw weakness isn't always prevalent in this condition but from what I've gathered pain and discomfort is.

    Here's the link that alerted me of this condition http://www.fodsupport.org/david.htm
     
  2. Sea

    Sea Senior Member

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    I am currently being investigated for this as my 23andme results turned up a rare genetic mutation that can be a cause of CPT2 deficiency. My doctor hasn't heard of it but was willing to pursue testing for it. Because it is so rare the pathology lab didn't know what to do with the doctor's request so it is taking a little while to get sorted.
     
  3. NilaJones

    NilaJones Senior Member

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    Do you know what the SNP is? Was the mutation flagged by 23andme, or did you find out in some other way?

    I am thinking that I, and maybe some others, will want to check for the same mutation!
     
  4. joshi81

    joshi81 Senior Member

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    interesting and wich test i useful to diagnose it?
     
  5. SickOfSickness

    SickOfSickness Senior Member

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    It says 80% who have it are male.

    And "this is a very rare problem (less than 250 cases documented in medical literature over the last few decades)".
     
  6. Ambrosia_angel

    Ambrosia_angel Senior Member

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    Yeah but a lot of people aren't diagnosed or are diagnosed too late. I'm not saying all people with cfs have the condition but it's one to consider especially for people who experience fibro symptoms after exercise etc.
     
  7. Ambrosia_angel

    Ambrosia_angel Senior Member

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    I would have to check for you but it's a part of the metabolic diseases. I'll reply back soon :)

    Edit: here's a useful link http://www.ncbi.nlm.nih.gov/books/NBK1527/
    Interesting that it mentions hypoglycemia which a lot of cfs patients are prone too. Maybe others can explain more about the link as I don't understand the med stuff properly tbh.
     
    Last edited: Jan 29, 2014
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  8. xchocoholic

    xchocoholic Senior Member

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    I thought we all experienced fibro symptoms after exercise. I also thought many of us can't even exercise at a normal pace without our muscles going into spasm. My physical therapist just told me to go slower.

    This sounds like something I should look into too. My heart pounds everytime I eat fatty foods now.

    I'm low on elastase tho and am missing a gallbladder and I'm a celiac so I thought my symptoms were from not being able to break down food/fats.

    That reminds me, hyperinsulinemia is common post lap band surgery or another type that reduces the size of the stomach. I wonder if they're having these symptoms too.

    tx ... x
     
  9. Ambrosia_angel

    Ambrosia_angel Senior Member

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    @xchocoholic I'm not exactly sure what cfs patients experience as my symptoms aren't even consistent with it :/ but I don't think everyone experiences fibro symptoms. Especially just after exercise. I know fibro patients experience tender points randomly and it's not always triggered by exercise but can be made "worse" by exercise if that makes sense.
    Cfs patients don't always experience pain and if they do it isn't always muscular. It can be joints or headaches too etc. Also most PWC can exercise but they get a severe crash afterwards and while the crash is going on exercise is impossible. But a lot of people can recover/improve slightly if they rest within the crash.
    Which is very similar to this condition.
     
  10. Sea

    Sea Senior Member

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    Valentijn flagged it in my 1% results. The prevalence of the mutation I have is 0.001% (and it is the most common one found for CPT2 deficiency) so it is unlikely that it will be relevant to many. If you've used Valentijn's programme or sent her your results it would be noted there if you had it.

    I don't think it is an explanation that would replace ME/CFS as a diagnosis, but for me it may explain some of the muscle pain.

    The snp is rs74315294 but you will find it in 23andme as i5000889.

    There are a couple of very common snps on this gene which don't have any effect by themselves but do make a rare mutation's effects worse. I am homozygous for one of those and hetero for the other.
     
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  11. WillowJ

    WillowJ Senior Member

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    It's always good to have conditions flagged to look into if the symptoms match, especially as many people with a CFS or ME label have had a minimum of investigations.

    I don't know about that. Some PWME can exercise but get a severe crash after, but some have too much muscle weakness, too much OI, too much pressure in the chest, etc., to even begin (or make more than a few steps of a beginning). I don't know how to quantify which is "most". But I suspect it is much more towards not able.

    Most patients with ME have their main ME crash beginning 24 or 48 hours after the exercise or activity, leading one to suspect an immune reaction (like what produces joint pain in Ehlers-Danlos syndrome). There is some support in the literature for this idea (e.g. a Snell paper and the Light papers)

    However if the ME/CFS patient also has OI, that part of the crash will be more immediate. I suspect there are additional issues which may vary by patient including things like ion channel problems in the muscles, various metabolic issues, mitochondrial problems, and heart problems, which could also lead to the immediate portion of the crash and intolerance.

    This is not a different situation from, for example, Lupus or multiple sclerosis where there is a general disease pattern and then variations.
     
    Last edited: Jan 30, 2014
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  12. Valentijn

    Valentijn Activity Level: 3

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    @Sea - I took a quick look at CPT2, and overall it was pretty normal for ME/CFS patients:

    CPT2.gif

    The RSID which is red and underlined is a missense mutation which is extremely common - basically there is no minor allele because both alleles have a 50% prevalence! It's somewhat interesting, however, that we have 19 "A" alleles out 24 (we should have about 12), compared to 11 out of 24 for the controls. That SNP has been studied a bit, and was found to not have an impact on gene function. But maybe it can have an impact when interacting with another factor?

    I'll take a look at CPT1A, CPT1B, and CPT1C to see how they look.
     
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  13. Soundthealarm21

    Soundthealarm21 Senior Member

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    @Valentijn Do you know if any of the PEX genes are available through 23andme?
     
  14. Valentijn

    Valentijn Activity Level: 3

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    Do you mean PHEX? If not, do you have the full name for them?
     
  15. Soundthealarm21

    Soundthealarm21 Senior Member

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    Peroxisome assembly protein
     
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  16. Valentijn

    Valentijn Activity Level: 3

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    Here's CPT1 - quite normal looking. Though the two "no calls" for the ME/CFS patients at i5000972 ( rs80356780 ) are slightly suspicious, since they are very close to a pathogenic deletion, and the SNP itself can produce a pathogenic missense mutation. Basically 23andMe seems to have a lot of trouble getting results near the more common insertions and deletions.

    CPT1.gif
     
  17. Valentijn

    Valentijn Activity Level: 3

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    Yeah, 23andMe tests for most of them. I'll add it to my long list of genes to look at :p
     
  18. Soundthealarm21

    Soundthealarm21 Senior Member

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    If you have a moment, would you mind looking at mine?
     
  19. Valentijn

    Valentijn Activity Level: 3

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    I'm really not up for it currently. I'm in the midst of a nasty POTS episode which is making it extremely difficult for me to concentrate on anything (or sit up, wash my hair, etc).
     
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  20. Soundthealarm21

    Soundthealarm21 Senior Member

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    Okay no worries. I hope you feel better.
     
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