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RE: Testing ...

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Hi Doris,

My son was tested by a metabolic/ genetic physician. After reading the court

case this week I went back in his medical file and checked his Lactate/ Pyruvate

ratio (I remembered that it was abnormal) the Pyruvate is very high @ 73 ...a

normal value is 10-20. His Lactate is normal 1.46, but Pyruvate is very low @

0.02. The metabolic physician wrote a note to me that she doesn't worry if the

Pyruvate is low and that it does not cause illness, only high values are of

concern ?? I guess she was wrong, because this was the abnormal test value that

led the physicians to diagnose the mitochondrial disorder in this little girls

case.

@...: sjsmith@...: Fri, 7 Mar 2008

07:22:29 -0500Subject: testing ...

Remind me:Does Dr G test for Mito Dysfunction in the blood tests?also, has

anyone had a chance to ask Dr G about this in any recent

discussions?thanks!doris

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Mito dysfunction can't be easily tested. It's *very* hard to dx a

mitochondrial disorder and it usually requires *much* more than a

blood test. Usually only those are highly symptomatic go through the

rigorous testing so it's not diagnosed probably as often as it is

present. Mitochondrial disorders range in severity from no symptoms

at all and living a perfectly normal life to being completely fatal.

Not too many of us would be willing to put our kids through the kind

of testing required to truly get a more accurate diagnosis without

being incredibly symptomatic. Most of the incredibly symptomatic

ones are diagnosed because they are failure to thrive since

mitochondria are the driving force behind how your cells create energy.

cheryl

On Mar 7, 2008, at 4:22 AM, Doris and Steve wrote:

> Remind me:

> Does Dr G test for Mito Dysfunction in the blood tests?

>

> also, has anyone had a chance to ask Dr G about this in any recent

> discussions?

>

> thanks!

> doris

>

>

>

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