April 24, 2008

Looking for Mitochondrial Disorders In Your Autistic Child

So there has been much, "How do i know if my child has a mitochondrial disorder" discussion these days. Here is a blurb from David Kirby on the biomarkers to look for that could point toward mito dysfunction. Discuss them with your doctor.

"1) Mark Blaxill sent this to me. It is a sample list of some of the higher estimates of mitochondrial imbalances in autism samples. Most of these are elevated relative to a reference range.

1. 47% (elevated serum creatine kinase, Poling et al)

2. 38% (elevated plasma aspartate aminotransferase, Poling et al) vs. 22% in controls

3. 28% (elevated plasma lactate/pyruvate ratio, Correia et al)

4. 20% (elevated plasma lactate, Oliveiro et al)

5. 17% (elevate plasma lactate, Correia et al)

6. 13-16% (two hyperlactidemia markers, Oliveiro et al)

7. 65% - Shoffner (I need to check this abstract – DK)

2) Another ASD doctor, who does not specialize in mito disorders, went back and looked at blood work from his patient caseload in Jan 08. A high lactate/low pyruvate ratio is one marker (though a child who squirms during a blood draw can have elevated levels, though Poling and others try to control for false negatives)

This is what the pediatrician found:

168 total visits (consecutive)
147 different patients (consecutive)
67 had blood lactate done in clinic and sent stat to the local hospital (45.5% of patients)
21/67 had a blood lactate above the normal reference range (31.3%)


MDMOM said...

Hmmm. I think we need to keep looking for more specific markers. In that big UK study out a couple of months ago, that didn't really show "no link" like it claimed, only 50% of autistic kids had adequate blood samples, i.e. squirmed so much they couldn't get enough blood. Call me crazy, but with 80% being boys, I think we need to look at an X-linked enzyme that's malfunctioning.

Kelley said...

Sadly, I'm having a difficult time looking for information on this subject that isn't in "med-speak".
My son tested low lysine levels and elevated alanine, "possibly suggesting elevated pyruvate." But liver, kidneys, celiac, and ferritin were all normal. IgA was present, and Homocycsteine was low. Urine OAT with yeast and HPHPA markers as well as Krebs Cycle and VMA and oxalate. Any reference suggestions?