Autism Spectrum Disorder-associated Biomarkers for Case Evaluation and Management by Clinical Geneticists

David A. Geier; Mark R. Geier


Expert Rev Mol Diagn. 2008;8(6):671-674. 

In This Article

Mitochondrial Dysfunction Biomarkers

Recent research has supported a role for mild mitochondrial dysfunction among ASDs.[40,41,42] Investigators reported that levels of free and total carnitine and pyruvate were significantly reduced, while ammonia and alanine levels were considerably elevated, in ASDs. These are suggestive of mild mitochondrial dysfunction.[40]

Mitochondrial dysfunction biomarkers available from LabCorp include carnitine (Test#706500), pyruvic acid (Test#004788), lactic acid (Test#004770) and ammonia (Test#007054) testing. Treatment of the mitochondrial dysfunction present in many ASDs may include administration of the mitochondrial respiratory chain cofactors to enhance mitochondrial function, such as Carnitor® (L-carnitine).


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