I'm not quite sure where to post this as there is no fragile x board. My son is being tested for fragile x and we are still waiting on the test results, but some tests have come back, including one for pyruvate. The doctor said his level is very high, does anyone know if this is common in children with fragile x or know anything about pyruvate and what this might mean.
Thank you.

High Pyruvate is common in kids with mitochondrial disorders. I would recommend him being tested for both metabolic & mitochondrial diosrders, including a Creatine/lactic acid ratio, as well as carnitine levels.
C-GA

How high is high? My son, who is autistic, has eating difficulties, and frequently regurgitates his food or refuses to eat altogether. Recent bloodwork showed an elevated pyruvate, which the pediatrician could not interpret. The level was about twice the "high" limit of normal.

Any info you have is GREATLY appreciated.

-Susan

"Another commonly available test is blood or urine pyruvic acid. Pyruvic acid can be elevated for a number of reasons, but mercury is notorious for interfering with the mitochondrial pyruvate dehydrogenase complex, where it binds to and deactivates the lipoic acid coenzyme, resulting in elevated pyruvic acid."

My sons Pyruvate was very low, however there were still tests that showed mercury damage. The mercury was the highest toxic element in the hair analysis, but again I believe a urine challenge test will show that there's alot more. :)