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Looking for Mitochondrial Disorders In Your Autistic Child

Posted Jun 16 2008 6:11pm
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%)
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