Relative Carnitine Deficiency in Autism |
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| Authors: | Filipek Pauline A. Juranek Jenifer Nguyen Minh T. Cummings Christa Gargus J. Jay |
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| Affiliation: | (1) Department of Pediatrics, College of Medicine, University of California, Irvine, CA, USA;(2) Division of Child Neurology, College of Medicine, University of California, Irvine, CA, USA;(3) Division of Human Genetics, College of Medicine, University of California, Irvine, CA, USA;(4) Department of Physiology and Biophysics, College of Medicine, University of California, Irvine, CA, USA;(5) UCI Medical Center, Route 81-4482, 101 City Drive South, Orange, CA 92868-3201, USA |
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| Abstract: | ![]()
A random retrospective chart review was conducted to document serum carnitine levels on 100 children with autism. Concurrently drawn serum pyruvate, lactate, ammonia, and alanine levels were also available in many of these children. Values of free and total carnitine (p < 0.001), and pyruvate (p=0.006) were significantly reduced while ammonia and alanine levels were considerably elevated (p < 0.001) in our autistic subjects. The relative carnitine deficiency in these patients, accompanied by slight elevations in lactate and significant elevations in alanine and ammonia levels, is suggestive of mild mitochondrial dysfunction. It is hypothesized that a mitochondrial defect may be the origin of the carnitine deficiency in these autistic children. |
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| Keywords: | Lactic acidosis mitochondrial disease autism hyperammonemia |
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