title: Relative carnitine deficiency in autism.
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.
authors.affiliation: Department of Pediatrics, College of Medicine, University of California, Irvine, CA, USA. filipek@uci.edu
authors.forename: Pauline A
authors.initials: PA
authors.lastname: Filipek
authors.forename: Jenifer
authors.initials: J
authors.lastname: Juranek
authors.forename: Minh T
authors.initials: MT
authors.lastname: Nguyen
authors.forename: Christa
authors.initials: C
authors.lastname: Cummings
authors.forename: J Jay
authors.initials: JJ
authors.lastname: Gargus
mesh_terms: D000293:Adolescent; D000409:Alanine / Q000097:blood; D001321:Autistic Disorder / Q000175:diagnosis / Q000378:metabolism*; D002331:Carnitine / Q000097:blood / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D039721:Diagnostic and Statistical Manual of Mental Disorders; D005260:Female; D006801:Humans; D022124:Hyperammonemia / Q000097:blood; D019344:Lactic Acid / Q000097:blood; D008297:Male; D019289:Pyruvic Acid / Q000097:blood; D012189:Retrospective Studies
chemical_list: D019344:Lactic Acid; D019289:Pyruvic Acid; D000409:Alanine; D002331:Carnitine