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Relative Carnitine Deficiency in Autism

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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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References

  • W. Ahearn T. Castine K. Nault G. Green (2001) ArticleTitleAn assessment of food acceptance in children with autism or pervasive developmental disorder-not otherwise specified Journal of Autism Developmental Disorders 31 IssueID5 505–511

    Google Scholar 

  • American Psychiatric Association. (1994). Diagnostic and statistical manual of mental disorders (4th ed.). Washington DC.

  • P. Borum (1995) ArticleTitleCarnitine in neonatal nutrition. Journal of Child Neurology 10 S25–S31

    Google Scholar 

  • J. Bremer (1983) ArticleTitleCarnitine–metabolism and functions Physiological Reviews 63 IssueID4 1420–1480

    Google Scholar 

  • Bremer, J. (1997). The role of carnitine in cell metabolism. In C. DeSimone & G.

  • Famularo (Eds.), Carnitine today (pp. 1–37). Austin, TX: Landes Bioscience.

  • G. Brenningstall (1990) ArticleTitleCarnitine deficiency syndromes Pediatric Neurology 6 IssueID2 75–81

    Google Scholar 

  • Ceccarelli, M., Cortigiani, L., Assanta, N., Balsano, L., & Chiaravalloti, G. (1992).

  • Plasma L-carnitine levels in children with celiac disease. Minerva Pediatrica, 44(9), 401–405.

  • R. Chalmers T. Stacey B. Tracey C. Sousa Particlede C. Roe D. Millington C. Hoppel (1984) ArticleTitleL-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy- 3-methylglutaric aciduria Journal of Inherited Metabolic Disease 7 109–110

    Google Scholar 

  • V. Cormier-Daire P. Rustin A. Rotiq D. Chretien M. Merrer ParticleLe D. Belli A. Goff ParticleLe P. Hubert C. Ricour A. Munnich (1996) ArticleTitleCraniofacial anomalies and malformations in respiratory chain deficiency American Journal of Medical Genetics 66 IssueID4 457–463

    Google Scholar 

  • S. Coyle (2000) ArticleTitlePhysical activity as a metabolic stressor. American Journal of Clinical Nutrition 72 S512–S520

    Google Scholar 

  • A. Urquiza ParticleDe S. Liu M. Sjoberg R. Zetterstrom W. Griffiths J. Sjovall T. Perlmann (2000) ArticleTitleDocosahexaenoic acid, a ligand for the retinoid X receptor in mouse brain Science 290 IssueID5499 2140–2144

    Google Scholar 

  • D. DeVivo T. Bohan D. Coulter F. Dreifuss R. Greenwood D. J. Nordli W. Shields C. Stafstrom I. Tein (1998) ArticleTitleL-carnitine supplementation in childhood epilepsy: current perspectives Epilepsia 39 1216–1225

    Google Scholar 

  • A. Engel C. Angelini (1973) ArticleTitleCarnitine deficiency of human skeletal muscle with associated lipid storage myopathy: A new syndrome Science 179 IssueID76 899–902

    Google Scholar 

  • G. Famularo F. Matricardi E. Nucera G. Santini C. Simone ParticleDe (1997) Carnitine deficiency: primary and secondary syndromes in metabolism G. Famularo C. De Simone (Eds) Carnitine Today Landes Bioscience Austin, TX 119–161

    Google Scholar 

  • V. Farkas I. Bock J. Cseko A. Sandor (1996) ArticleTitleInhibition of carnitine biosynthesis by valproic acid in rats—the biochemical mechanism of inhibition Biochemical Pharmacology 52 IssueID9 1429–1433

    Google Scholar 

  • P.A Filipek P. J. Accardo G. T. Baranek E. H. J. Cook G. Dawson B. Gordon J. S. Gravel C. P. Johnson R. J. ‘Kallan S. E. Levy N. J. Minshew B. M. Prizant I. Rapin S. J. Rogers W. L. Stone S. Teplin R. F. Tuchman F. Volkmar (1999) ArticleTitleThe screening and diagnosis of autistic spectrum disorders Journal of Autism and Developmental Disorders 29 437–482

    Google Scholar 

  • P. A. Filipek P. J. Accardo A. S G. T. Baranek E. H. J. Cook G. Dawson B. Gordon J. S. Gravel C. P. Johnson R. J. Kallan S. E. Levy N. J. Minshew S. Ozonoff B. M. Prizant I. Rapin S. J. Rogers W. L. Stone S. Teplin R. F. Tuchman F. Volkmar (2000) ArticleTitlePractice parameter: Screening and diagnosis of autistic spectrum disorders Neurology 55 468–479

    Google Scholar 

  • P. A. Filipek J. Juranek M. Smith E. Ramos L. Mays M. E. Bocian D. Masser-Frye T. Laulhere C. Modahl M. Spence J. Gargus (2003) ArticleTitleEvidence of mitochondrial dysfunction in autistic patients with 15q inverted duplication Annals of Neurology 53 IssueID6 801–804

    Google Scholar 

  • J. Gargus K. Boyle M. E. Bocian D. S. Roe C. Vianey-Saban C. Roe (2003) ArticleTitleRespiratory complex II defect in sibs associated with a symptomatic secondary block in fatty acid oxidation Journal of Inherited Metabolic Disease 26 659–670

    Google Scholar 

  • K. Horvath J. Papadimitriou A. Rabsztyn C. Drachenberg J. Tildon (1999) ArticleTitleGastrointestinal abnormalities in children with autistic disorder Journal of Pediatrics 135 IssueID5 559–563

    Google Scholar 

  • M. Huizing V Iacobazzi L Ijlst P Savelkoul W Ruitenbeek L. Heuvel Particlevan den C. Indiveri J Smeitink F. Trijbels R. Wanders F. Palmieri (1997) ArticleTitleCloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient American Journal of Human Genetics 61 IssueID6 1239–1245

    Google Scholar 

  • J. Infante V. Huszagh (2000) ArticleTitleSecondary carnitine deficiency and impaired docosahexaenoic (22:6n-3) acid synthesis: A common denominator in the pathophysiology of diseases of oxidative phosphorylation and beta-oxidation FEBS Letters 468 IssueID1 1–5

    Google Scholar 

  • F. Inoue N. Terada H. Nakajima M. Okochi N. Kodo Z. Kizaki A. Kinugasa T. Sawada (1999) ArticleTitleEffect of sports activity on carnitine metabolism Measurement of free carnitine gamma-butyrobetaine and acylcarnitines by tandem mass spectrometry. Journal of Chromatography B-Biomedical Sciencs Applications 731 IssueID1 83–88

    Google Scholar 

  • J. Kerner C. Hoppel (1998) ArticleTitleGenetic disorders of carnitine metabolism and their nutritional management Annual of Review Nutrition 18 179–206

    Google Scholar 

  • A. Lerner N. Gruener T. Iancu (1993) ArticleTitleSerum carnitine concentrations in coeliac disease Gut 34 933–935

    Google Scholar 

  • L. Levin E. Carr (2001) ArticleTitleFood selectivity and problem behavior in children with developmental disabilities: Analysis and intervention Behavior Modification 25 IssueID3 443–470

    Google Scholar 

  • J. H. Miles R. E. Hillman (2000) ArticleTitleValue of a clinincal morphology examination in autism American Journal of Medical Genetics 91 IssueID4 245–253

    Google Scholar 

  • Y. Ohtani F. Endo I. Matsuda (1982) ArticleTitleCarnitine deficiency and hyperammonemia associated with valproic acid therapy Journal of Pediatrics 101 IssueID5 782–785

    Google Scholar 

  • R Pons D. DeVivo (1995) ArticleTitlePrimary and secondary carnitine deficiency syndromes. Journal of Child Neurology 10 S8–S24

    Google Scholar 

  • F. Proulx J. Lacroix I. Qureshi D. Nadeau M. Gauthier M. Lambert (1997) ArticleTitleAcquired carnitine abnormalities in critically ill children European Journal of Pediatrics 156 IssueID11 864–869

    Google Scholar 

  • G. Repetto L. White P. Bader D. Johnson J. Knoll (1998) ArticleTitleInterstitial duplications of chromosome region 15q11q13: clincal and molecular characterization American Journal of Medical Genetics 79 IssueID2 82–89

    Google Scholar 

  • P. Rinaldo R. Welch S. Previs E. Schmidt-Sommerfeld J. Gargus J. O’Shea A. Zinn (1991) ArticleTitleEthylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines Pediatric Research 30 IssueID3 216–221

    Google Scholar 

  • P. Rinaldo H. Yoon C. Yu K. Raymond C. Tiozzo G. Giordano (1999) ArticleTitleSudden and unexpected neonatal death: A protocol for the postmortem diagnosis of fatty acid oxidation disorders Semin Perinatology 23 IssueID2 204–210

    Google Scholar 

  • C. Roe (1997) ArticleTitleClinical experience with carnitine deficiency Journal of Rare Disease 111 5–11

    Google Scholar 

  • C. Roe J. Ding (2001) Mitochondrial Fatty Acid Oxidation Disorders C. Scriver A. Beaudet W. Sly D. Valle (Eds) The metabolic and molecular basis of inherited disease McGraw Hill New York 2297–2326

    Google Scholar 

  • F. Scaglia Y. Wang R. Singh P. Dembure M. Pasquali P. Fernhoff N. Longo (1998) ArticleTitleDefective urinary carnitine transport in heterozygotes for primary carnitine deficiency Genetics in Medicine 1 IssueID1 34–39

    Google Scholar 

  • J. Schafer H. Reichmann (1990) ArticleTitleSubnormal carnitine levels and their correction in artificially fed patients from a neurological intensive care unit: a pilot study Journal of Neurology 237 IssueID3 213–215

    Google Scholar 

  • R. Shavelle D. Strauss J. Pickett (2001) ArticleTitleCauses of death in autism Journal of Autism Developmental Disorders 31 569–576

    Google Scholar 

  • W. Triggs T. Bohan S. Lin L. Willmore (1990) ArticleTitleValproate-induced coma with ketosis and carnitine insufficiency Archives of Neurology 47 IssueID10 1131–1133

    Google Scholar 

  • R. F. Tuchman I. Rapin (1997) ArticleTitleRegression in pervasive developmental disorders: Seizures and epileptiform electroencephalogram correlates Pediatrics 99 560–566

    Google Scholar 

  • S. Vancassel G. Durand C. Barthelemy B. Lejune J. Martineau D. Guilloteau C. Andres S. Chalon (2001) ArticleTitlePlasma fatty acid levels in autistic children Prostaglandins Leukot Essent Fatty Acids 65(1) IssueID1 1–7

    Google Scholar 

  • Y. Wang S. Korman J. Ye J. Gargus A. Gutman F. Taroni B. Garavaglia N. Longo (2001) ArticleTitlePhenotype and genotype variation in primary carnitine deficiency Genetics in Medicine 3 IssueID6 387–392

    Google Scholar 

  • R. Wiesner T. Hornung J. Garman D. Clayton E. O’Gorman T. Wallimann (1999) ArticleTitleStimulation of mitochondrial gene expression and proliferation of mitochondria following impairment of cellular energy transfer by inhibition of the phosphocreatine circuit in rat hearts Journal of Bioenergetics Biomembranes 31 IssueID6 559–567

    Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, College of Medicine, University of California, Irvine, CA, USA

    Pauline A. Filipek, Jenifer Juranek, Minh T. Nguyen, Christa Cummings & J. Jay Gargus

  2. Division of Child Neurology, College of Medicine, University of California, Irvine, CA, USA

    Pauline A. Filipek

  3. Division of Human Genetics, College of Medicine, University of California, Irvine, CA, USA

    J. Jay Gargus

  4. Department of Physiology and Biophysics, College of Medicine, University of California, Irvine, CA, USA

    J. Jay Gargus

  5. UCI Medical Center, Route 81-4482, 101 City Drive South, Orange, CA, 92868-3201, USA

    Pauline A. Filipek

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  1. Pauline A. Filipek
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  2. Jenifer Juranek
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  3. Minh T. Nguyen
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  5. J. Jay Gargus
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Correspondence to Pauline A. Filipek.

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Filipek, P.A., Juranek, J., Nguyen, M.T. et al. Relative Carnitine Deficiency in Autism. J Autism Dev Disord 34, 615–623 (2004). https://doi.org/10.1007/s10803-004-5283-1

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