Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain

Investigacion Clinica

Volumn 51, Issue 3, 2010, Pages 423-431

  Guevara Campos, José ^a   González Guevara, Lucía ^b   Briones, Paz ^c   López Gallardo, Ester ^d   Bulán, Nuria ^c   Ruiz Pesini, Eduardo ^d   Ramnarine, Denisse ^a   Montoya, Julio ^d  

^a UNIVERSIDAD DE ORIENTE   (Venezuela)

^b Epilepsy and Encephalography Unit   (Venezuela)

^c HOSPITAL CLÍNIC   (Spain)

^d UNIVERSITY OF ZARAGOZA   (Spain)

Author keywords

Autism; Lactate; Mitochondrial disease; Muscular biopsy; Pyruvate

Indexed keywords

LACTIC ACID; PYRUVIC ACID;

ANION GAP; ARTICLE; AUTISM; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; FEMALE; HEARING IMPAIRMENT; HUMAN; LABORATORY TEST; MENTAL DISEASE; MICROSCOPY; MUSCLE BIOPSY; MUSCLE CELL; OBJECT RELATION; PSYCHOMOTOR DEVELOPMENT; RESPIRATORY CHAIN; SPEECH; VISUAL FIELD; WALKING;

AUTISTIC DISORDER; CHILD, PRESCHOOL; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX III; FEMALE; HUMANS;

EID: 78650463098     PISSN: 05355133     EISSN: 05355133     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. Kanner L. Autistic disturbances of affective contact. Nervous Child 1943; 2:217-250.
2. Volkmar FR, Pauls D. Autism. Lancet 2003; 362:1133-1141.
3. Martos-Pérez J. Autismo, neurodesarrollo y detección temprana. Rev Neurol 2006; 42 (supl 2):S99-S101.
4. Jay J, Imtiaz F. Mitochondrial energy-deficient endophenotype in autism. Am J Biochem Biotech 2008; 4(2):198-207.
5. Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, Mishmar D, Yi C, Kreuziger J, Baldi P, Wallace DC. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007; 35:823-828.
6. Brown MD, Shoffner JM, Kim YL, Jun AS, Graham BH, Cabell MF, Gurley DS, Wallace DC. Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am J Med Genet 1996; 61(3):283-289.
7. Parker WD Jr, Parks JK, Swerdlow RH. Complex I deficiency in Parkinson's disease frontal cortex. Brain Res 2008; 1189: 215-218.
8. Kaufmann WE, Capone GT, Clarke M, Hohmann CF. Autism in genetic intellectual disability. In Zimmerman AW, ed. Autism: Current theories and evidences. Totowa, N.J.: Humana Press 2008. p. 81- 108.
9. American Psychiatric Association. Pervasive developmental disorders. Diagnostic and Statistical Manual of Mental Disorders. 4 ed. Washington, DC; American Psychiatric Association 1994:65-98.
10. Oliveira G, Diogo L, Grazina M, Garcia P, Ataide A, Marques C, Miguel T, Borges L, Vicente AM, Oliveira CR. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Neurol 2005; 47:185-189. (Pubitemid 40277824)
11. Rossignol DA, Bradstreet JJ. Evidence of mitochondrial dysfunction in autism and implications for treatment. A J Biochem Biotechnol 2008; 4(2):208-217. (Pubitemid 351573654)
12. DiMauro S, Mancuso M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 2007; 27(1-3):125-137.
13. Serajee FJ, Zhang H, Huq AHMM. Prevalence of common mitochondrial point mutations in autism. Neuropediatrics 2006; 37(suppl1):S127.
14. García-Peñas JJ. Autismo, epilepsia y patología del lóbulo temporal. Rev Neurol 2009; 48:35-45.
15. Guevara-Campos J, González-Guevara L. Treatment of infantile spasm: a Venezuelan experience. J Pediatr Neurol 2005; 3:159-163.
16. Guevara-Campos J, González-Guevara L, Urbáez J. Espasmos infantiles y síndrome de West: Una Revisión. Arch Venez Puer Ped 2004; 67:187-193.
17. Chugani HT, da Silva E, Chugani DC. Infantile spasm: III Prognostic implications of bitemporal hypometabolism on positron emission tomography. Ann Neurol 1996; 39: 643-649.
18. Mehmet-Haznedar M, Buchsbaum M, Hazlett EA, Li Calzi EM, Cartwright Ch, Hollander E. Volumetric analysis and three-dimensional glucose metabolic mapping of the striatum and thalamus in patients with autism spectrum disorders. Am J Psychiatry 2006; 163:1252-1263. (Pubitemid 44464455)
19. Galuska L, Szakáil S Jr, Emri M, Oláh R, Vargas J, Garal I, Kollár J, Pataki I, Trón L. PET and SPECT scans in autistic children. Orv Hetil 2002; 143: 1302-1304.
20. Tuchman R. Autism. Neurol Clin N Am 2003; 21:915-932.
21. Guevara-Campos J, González-Guevara L. Síndrome de Landau-Kleffner: Análisis de 10 casos en Venezuela. Rev Neurol 2007; 44:652-656.
22. Canitano R, Zapella M. Autism epileptiform regression. Functional Neurology 2006; 21(2): 97-101.
23. Lerman-Sagie T, Leshinsky-Silver E, Waterberg N, Lev D. Should autistic children be evaluated for mitochondrial disorders?. J Child Neurol 2004; 19: 379-381. (Pubitemid 38867949)
24. Ueki I, Koga Y, Povalko N, Akita Y, Nishioka J, Yatsuga S, Fukiyama R, Matsuishi T. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis. Mitochondrion 2006; 6:29-36.
25. Fillano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J. Mitochondrial dysfunction in patients with hipotonia, epilepsy, autism and developmental delay: HEADD syndrome. J Child Neurol 2002; 17:435-439. (Pubitemid 35012139)
26. DiMauro S. Mitochondrial disease. Biochim Biophys Acta 2004; 1658:80-88.
27. DiMauro S, Schon EA. Mitochondrial respiratory- chain diseases. N Engl J Med 2003; 348:2656-2668.
28. Pons R, Andreu AL, Checcarelli N, Vila MR, Engelstad K, Sue CM, Shungu D, Haggerty R, Vivo DC, DiMauro S. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr 2004; 144: 81-85. (Pubitemid 38091426)
29. Ruiz-Pesini E, López-Gallardo E, Dahmani Y, Herrero MD, Solano A, Díez-Sánchez C, López-Pérez M, Montoya J. Enfermedades del sistema de fosforilación oxidativa mitocondrial humano. Rev Neurol 2006; 43:416-424. (Pubitemid 47574023)
30. Zecavati N, Spence SJ. Neurometabolic disorders and dysfunction in autism spectrum disorders. Curr Neurol Neurosci Rep 2009; 9(2):129-136.