1. Patients launch $1.27 million crowdfunding campaign for ME/CFS gut microbiome study.
    Check out the website, Facebook and Twitter. Join in donate and spread the word!
Phoenix Rising Adds Two New Board Members
Mark Berry introduces the new President of Phoenix Rising, Dr. Gary Solomon, and welcomes Professor Jonathan Edwards to the Phoenix Rising Board of Directors.
Discuss the article on the Forums.

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

    Messages:
    747
    Likes:
    874
    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.
     
    Valentijn likes this.
  2. Sea

    Sea Senior Member

    Messages:
    747
    Likes:
    874
    NSW Australia
    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.
     
    Valentijn, Ambrosia_angel and SOC like this.

See more popular forum discussions.

Share This Page