Dr. Bateman answers IOM questions from the community: Part 1
Clark Ellis brings us Part 1 of an interview with Dr. Lucinda Bateman, where she answered questions posed by the patient community ...
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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. Sea

    Sea Senior Member

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    NSW Australia
    Yes those last two in the chart are the two common ones that I have with 50% and 25% frequency respectively. They are known as secondary mutations and are known to reduce the activity of the enzyme even further if there are primary mutations.

    In one of the studied rare mutations (not the one I have) enzyme activity is reduced to 70% without the common mutation and 30% with. The rare mutation I have reduces the enzyme activity to somewhere between 10% - 20% by itself. I haven't been able to find what effect the common one has with my mutation but I am presuming it will also have some effect.
     
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  2. Sea

    Sea Senior Member

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    To add to Ambrosia's first post with symptoms and clinical picture:

    Researchers are still learning about this as it is very rare. The older literature says this is a recessive disorder that will only manifest in those who are homozygous for a rare mutation. As more cases have been investigated though it has become evident that those who are heterozygous or compound heterozygous can also be affected.

    This was discovered when testing parents of severely affected homozygous infants or children and finding out that their heterozygous parents sometimes had symptoms as well, ranging from mild to quite life altering.

    Also, at first there was a belief that there were "episodes" following various triggers and a complete return to normal in between. That too has been proven not to be the case with some people having chronic symptoms.
     
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  3. Pajk

    Pajk

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    I have had had CFS symptoms for 3 years. I am 48 years old. Prior to becoming symptomatic I was a distance runner racing competitively at local level until age 45. Recently it was discovered I was heterozygous for cpt2 c.338c>T [p.Ser113Leu] mutation. I too wonder about how many individuals with sudden onset of symptoms suffer from this mutation. Moreover, I tested very low for GLA enzyme associated with fabry disease but did not have the mutation associated with that illness. I have positive ANA and RNP (both low) as well.
     
  4. Valentijn

    Valentijn Activity Level: 3

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    Amersfoort, Netherlands
    @Pajk - CPT2 S113L will only have an impact if you're homozygous for it, or compound heterozygous with another pathogenic missense mutation on the same gene.
     
  5. Pajk

    Pajk

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    Valentijn -Thank you for your feedback. Yes - they could not definitively say I have cpt2 deficiency due to single mutation. However, The geneticist who found the mutation explained it's possible that I do have cpt2 deficiency as they simply don't know enough about affects of single mutation, at this point. My father, and his mother, were afflicted with similar symptoms. A biopsy has been recommended. Muscle MRI showed mild myopathy -non specific.
     
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