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    Registered User HammyMD's Avatar
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    Anyone else with AMPD1 deficiency?

    I did DNA testing and ran my results through the promethease website and found out that I'm homozygous for AMPD1 deficiency. It's a really common genetic mutation (12% of Caucasians and 19% of African Americans). I've always been really sore the next two days after lifting or doing resistance training, but I just attributed it to ordinary DOMS. Never noticed any problems staying fit or making gains. Anybody happen to know their DNA and have experience with this?
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    Verified Aesthetic rhadam's Avatar
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    How is your diet? How much protein do you ingest on a daily basis?
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    Registered User HammyMD's Avatar
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    Eh, fairly balanced. I pay attention to getting enough vegetables/fiber and avoiding excessive saturated fat and simple sugars, but otherwise don't restrict. Def haven't counted out my protein in a while, but usually 4 oz lean meat with a vegetarian protein/eggs/or milk at another meal. And a protein/carb snack before actual workouts. 70g if I had to guess and I'm 65 kg.
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    Standard recommendations regarding protein intake here involve some combination of ~1.8 grams per kilogram of lean body mass or 20-40 grams 4x throughout the day.

    Regarding AMPD1 deficiency, I don't have it to my knowledge. It's a common mutation but is an autosomal recessive disease, so only ~1-2% of people have it, and for reasons not understood some people with it have no symptoms while others have significant symptoms. Out of curiosity, have you tried using creatine to see if that helps?
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    Registered User poorejj's Avatar
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    AMPD1 Deficiency

    Originally Posted by HammyMD View Post
    I did DNA testing and ran my results through the promethease website and found out that I'm homozygous for AMPD1 deficiency. It's a really common genetic mutation (12% of Caucasians and 19% of African Americans). I've always been really sore the next two days after lifting or doing resistance training, but I just attributed it to ordinary DOMS. Never noticed any problems staying fit or making gains. Anybody happen to know their DNA and have experience with this?

    HammyMD, I am heterozygous for AMPD1 deficiency (are you sure you are homozygous? That is quite rare, while being heterozygous is somewhat common in the Caucasoid population).

    Concerning the deficiency, ever since high school, in my weightlifting classes, I noticed that while I could lift as much as other people, I lost strength quicker. Based on everything I've read concerning AMPD1 deficiency, this would make sense. We do not produce ATP as rapidly. However, that has not stopped me from exercising, and I am nearing a 300 1rm bench press and my arms are at 16 5/8".

    I have found that a combination of 4g beta-alanine, 6g Citrulline-Malate 2:1, and 5g D-Ribose 20 min. prior to my workouts has helped a lot.

    Creatine never does much for me. I suppose it's because AMPD1 deficient individuals are somewhat of non Creatine responders. I would post a link to prove this, but this is my first post here and I cannot do so. Just google this: "Effect of creatine supplementation on physical performance are related to the AMPD1 and PPARG genes polymorphisms in football players."
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    Originally Posted by poorejj View Post
    HammyMD, I am heterozygous for AMPD1 deficiency (are you sure you are homozygous? That is quite rare, while being heterozygous is somewhat common in the Caucasoid population).

    Concerning the deficiency, ever since high school, in my weightlifting classes, I noticed that while I could lift as much as other people, I lost strength quicker. Based on everything I've read concerning AMPD1 deficiency, this would make sense. We do not produce ATP as rapidly. However, that has not stopped me from exercising, and I am nearing a 300 1rm bench press and my arms are at 16 5/8".

    I have found that a combination of 4g beta-alanine, 6g Citrulline-Malate 2:1, and 5g D-Ribose 20 min. prior to my workouts has helped a lot.

    Creatine never does much for me. I suppose it's because AMPD1 deficient individuals are somewhat of non Creatine responders. I would post a link to prove this, but this is my first post here and I cannot do so. Just google this: "Effect of creatine supplementation on physical performance are related to the AMPD1 and PPARG genes polymorphisms in football players."
    In.

    Recently diagnosed through DNA testing @ Columbia Presbyterian and I'm astonished at how little I've been able to learn about it.

    Also just registered at a site called phoenixrising where I found a relevant thread, PM me if anyone sees this and wants the link.
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