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Thread: Pseudocholinesterase deficiency

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    Pseudocholinesterase deficiency

    According to various sources, this condition is a reaction to certain anesthetics, it's caused by a recessive blood enzyme abnormality. It impacts 1 in 10 Iraqi and Iranian Jews, but in addition to that, also effects the Arya Vysya community in India. If the patient is administered the improper anesthetics, it can cause temporary paralysis of the respiratory muscles. Seeing as how Assyrians and Mandaeans are two populations Iraqi and Iranian Jews are closest to, I'm wondering if Pseudocholinsterase deficency is present in us as well, if it is then this is certainly something that needs more widespread recognition in those communities as well.

    The origins of genetic disorders interests me, I am aware that malaria confers a resistance to sickle cell disease, but I wonder what possible benefits Pseudocholinsterase deficiency has in the aforementioned groups.
    Last edited by ZephyrousMandaru; 08-25-2015 at 05:56 AM.

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    Quote Originally Posted by ZephyrousMandaru View Post
    According to various sources, this condition is a reaction to certain anesthetics, it's caused by a recessive blood enzyme abnormality. It impacts 1 in 10 Iraqi and Iranian Jews, but in addition to that, also effects the Arya Vysya community in India. Seeing as how Assyrians and Mandaeans are two populations Iraqi and Iranian Jews are closest to, I'm wondering if Pseudocholinsterase deficency is present in us as well.
    According to 23andMe, the following are my results for this particular condition:

    One copy of one of the BCHE mutations reported by 23andMe. Increased risk for slightly extended paralysis and apnea after treatment with choline ester drugs.

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    Quote Originally Posted by Humanist View Post
    According to 23andMe, the following are my results for this particular condition:
    I'll have to check mine, if you ever go in for surgery, it's probably best if you let whoever the anesthesiologist is not to administer any choline ester based drugs.

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    From my mom's 23andme report.
    One copy of one of the BCHE mutations reported by 23andMe. Increased risk for slightly extended paralysis and apnea after treatment with choline ester drugs.
    Before my mom had taken the 23andme test she was given succinylcholine for intubation. It had taken her an awful long time to come off the ventilator.

    Edit- If I just looked it up correctly SNP rs28933390 for variant Gly390Val (F2). DNA change C to A. My mom was AC, my daughter and myself are also AC.

    There is also for the report rs1799807 Asp70Gly (A) DNA change T to C, and rs28933389 Thr243Met (F1) DNA change G to A. She only had the Gly390Val (F2) which they reported put her at increased risk.
    Last edited by Tįltos; 08-26-2015 at 03:55 AM.

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