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Developmental Regression and Mitochondrial Dysfunction in a Child With Autism
Jon S. Poling, MD, PhD, Richard E. Frye, MD, PhD, John Shoffner, MD, and Andrew W. Zimmerman, MD

J Child Neurol. Author manuscript; available in PMC 2008 Sep 15.
Published in final edited form as:
J Child Neurol. 2006 Feb; 21(2): 170–172.
doi: 10.2310/7010.2006.00032

Abstract
Autistic spectrum disorders can be associated with mitochondrial dysfunction. We present a singleton case of developmental regression and oxidative phosphorylation disorder in a 19-month-old girl. Subtle abnormalities in the serum creatine kinase level, aspartate aminotransferase, and serum bicarbonate led us to perform a muscle biopsy, which showed type I myofiber atrophy, increased lipid content, and reduced cytochrome c oxidase activity. There were marked reductions in enzymatic activities for complex I and III. Complex IV (cytochrome c oxidase) activity was near the 5% confidence level. To determine the frequency of routine laboratory abnormalities in similar patients, we performed a retrospective study including 159 patients with autism (Diagnostic and Statistical Manual of Mental Disorders-IV and Childhood Autism Rating Scale) not previously diagnosed with metabolic disorders and 94 age-matched controls with other neurologic disorders. Aspartate aminotransferase was elevated in 38% of patients with autism compared with 15% of controls (P < .0001). The serum creatine kinase level also was abnormally elevated in 22 (47%) of 47 patients with autism. These data suggest that further metabolic evaluation is indicated in autistic patients and that defects of oxidative phosphorylation might be prevalent.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2536523/