baby blue eyesYes, literally, and could save other children from a lifetime of ill health easily avoided. Genetic disorders effect millions of children, and there’s 29 currently screened for by simple blood test, but not the one this baby and others suffer from.  Some children have been mistakenly diagnosed with Cerebral Palsy (and likely other disorders) when in fact it was an easily treatable disorder known as GAMT deficiency or simply “creatine deficiency disorder.”

GAMT deficiency, which can be tested for easily, has some researchers pushing for newborn screening that would use the same blood test that screens for 29 recommended disorders. Without early intervention, brain damage can be permanent, so it must be caught early.

This recent story really brings home how this inexpensive non-toxic nutritional supplement could be a life saver for children with this easily testable genetic disorder:

Creatine deficiency among disorders underdiagnosed, researchers say

“…considering where his story began. At six-months-old, his mom Melissa Klor said he wasn’t even close to sitting up or meeting any of his milestones.

A developmental pediatrician diagnosed John with cerebral palsy. 

‘It kind of took our world and flipped it upside down,’ Melissa said.

Then, when John was 13-months-old, a second opinion changed everything. A team at Duke University Medical Center diagnosed him with a creatine deficiency, known as GAMT deficiency.

‘Creatine is essential to the body storing and retrieving energy for normal function of muscle and brain,’ said Dr. Dwight D. Koeberl, MD and associate professor at Duke University Medical Center’s Division of Pediatrics.

John’s body wasn’t making any. Within a few months of his diet and adding supplements, John began to walk and talk.”

A web site set up by the mother of the child who was saved by creatine, as a resource for other parents can be found HERE. 

A more all encompassing term being used at the site linked above is, Cerebral Creatine Deficiency Syndromes (CCDS). CCDS “… are a group of inborn errors of creatine metabolism including AGAT, CTD, and GAMT. Symptoms may include: intellectual delays, expressive speech and language delay, autistic-like behavior, hyperactivity, seizures, projectile vomiting in infancy, failure to thrive, and movement disorders” 

Bottom Line

As anyone who my stuff  is well aware, I have been a big proponent of creatine (as monohydrate ) for decades, and studies continue to grow showing a wide variety of potential health benefits and that directly impact various diseases in a positive manner. I don’t think there’s anyone who would not benefit in some way from this supplement at this point, but it’s especially important that infants get tested for CCDS as they are for other inborn errors of metabolism. 

If you want more info on the various benefits of creatine, searching the BrinkZone will also bring up articles and vids HERE.

 

9 Comments
  1. Cal 5 years ago

    Great story. Hopefully it will help someone else who may need this information.
    My sister was diagnosed with early-onset Parkinson ’s disease (she was in her early 40’s). I told her to start taking Creatine Monohydrate and that it might help her. On her next visit to her doctor she told the doctor what I suggested. The doctor threw up her arms and spent 5 minutes telling my sister how dangerous Creatine is. My sister reported this to me about the same time I found your site and paper on Creatine.
    I printed out the paper (I had a web address to your site hand written on the print out) and gave it to my sister who took it to the doctor. One month later the doctor apologized and told my sister to start taking Creatine.
    The doctor, herself, actually followed up on the references in your paper on Creatine and was EXTREMELY impressed.
    Keep up the good work Will. You’re changing the world.

    • Author
      Will Brink 5 years ago

      Was it the Creatine Report you gave the doc? I wrote that specifically for both clinicians (medical professionals. etc) and non science types so they could get the full info on creatine. Although the report could use some updating, studies published since the original report have simply continued to support, or add new benefits, of creatine. Glad it helped your sister.

      • Cal 5 years ago

        Yes it was the Creatine Report. This doctor is world renown and one of the top 10 doctors in the Parkinson’s arena and she was impressed with your Creatine Report. The world thinks the only information we bodybuilders get is from Bro Science, but they don’t know about guys like you.

        • Author
          Will Brink 5 years ago

          As I wrote for virtually every major bbing publication for years and am fairly well
          known via the net, plenty of bbers do know my creatine info. But, there’s
          plenty who don’t and yes, depend on the bro science. Im happy to say
          many docs, etc have read that report.

  2. Pat 5 years ago

    Great story Will but you might want to fix your typos. You’re spelling John at least three different ways 😉

    • Author
      Will Brink 5 years ago

      I’m Mr Typo Pat, but you’ll note the spelling of his name is inside quotes. So, that’s the person I cut and pasted the quotes from. The kids name is John Klor, and it looks like they sort of combined his name into one in a few spots. I changed them all to John, but technically not an exact quote now. If you see typos outside the bold quotes, that’s me for sure.

  3. Eldon L. Raison 5 years ago

    Amazing! Way to go Will. I have been preaching the bennies of creatine for years to family and friends. Years ago, the show CSI aired a episode in which a young athlete died from creatine. No overdose mind you. And this is what people remember. Like Melatonin and some other sup’s, creatine just gets better and better. Thanks Will.

    • Author
      Will Brink 5 years ago

      CSI is a fun show. The problem is many get their “facts” from silly shows like CSI. 🙁

  4. Kim 4 months ago

    Question: did the creatine help with the Parkinson?

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