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Relative Carnitine Deficiency in Autism

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 ([rho] less than 0.001), and pyr...

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Bibliographic Details
Published in:Journal of autism and developmental disorders 2004-12, Vol.34 (6), p.615-623
Main Authors: Filipek, Pauline A, Juranek, Jenifer, Nguyen, Minh T, Cummings, Christa, Gargus, J. Jay
Format: Article
Language:English
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Summary: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 ([rho] less than 0.001), and pyruvate ([rho]=0.006) were significantly reduced while ammonia and alanine levels were considerably elevated ([rho] less than 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.
ISSN:0162-3257
1573-3432
DOI:10.1007/s10803-004-5283-1