메뉴 건너뛰기




Volumn 28, Issue 4, 2013, Pages 605-612

Autism spectrum disorders associated to a deficiency of the enzymes of the mitochondrial respiratory chain

Author keywords

Autism; Lactate; Mitochondrial alteration; Muscular biopsy

Indexed keywords

ANTICONVULSIVE AGENT; CARBOXYLYASE; CARNITINE; CITRATE SYNTHASE; CYTOCHROME C; CYTOCHROME C OXIDASE; FOLIC ACID; LACTIC ACID; MAMMALIAN TARGET OF RAPAMYCIN COMPLEX 1; PYRUVATE DEHYDROGENASE; PYRUVIC ACID; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RISPERIDONE; SUCCINIC ACID; UBIQUINOL CYTOCHROME C REDUCTASE; UBIQUINONE; VALPROIC ACID; VITAMIN B GROUP;

EID: 84887224318     PISSN: 08857490     EISSN: 15737365     Source Type: Journal    
DOI: 10.1007/s11011-013-9419-x     Document Type: Article
Times cited : (27)

References (38)
  • 1
    • 67349211024 scopus 로고    scopus 로고
    • Metabolic biomarkers related to energy metabolism in Saudi autistic children
    • 19376103 1:CAS:528:DC%2BD1MXnt1emt7w%3D
    • Al-Mosalem OA, El-Ansary A, Attas O, Al-Ayadhi L (2009) Metabolic biomarkers related to energy metabolism in Saudi autistic children. Clin Biochem 42(10-11):949-957
    • (2009) Clin Biochem , vol.42 , Issue.10-11 , pp. 949-957
    • Al-Mosalem, O.A.1    El-Ansary, A.2    Attas, O.3    Al-Ayadhi, L.4
  • 5
    • 79953723451 scopus 로고    scopus 로고
    • Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism
    • 21250997 1:CAS:528:DC%2BC3MXltFGiu7w%3D
    • Chauhan A, Gu F, Essa MM, Wegiel J, Kaur K, Brown WT, Chauhan V (2011) Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism. J Neurochem 117(2):209-220
    • (2011) J Neurochem , vol.117 , Issue.2 , pp. 209-220
    • Chauhan, A.1    Gu, F.2    Essa, M.M.3    Wegiel, J.4    Kaur, K.5    Brown, W.T.6    Chauhan, V.7
  • 7
    • 0021913046 scopus 로고
    • Autism and lactic acidosis
    • 3980425 1:STN:280:DyaL2M7lsleksQ%3D%3D
    • Coleman M, Blass JP (1985) Autism and lactic acidosis. J Autism Dev Disord 15(1):1-8
    • (1985) J Autism Dev Disord , vol.15 , Issue.1 , pp. 1-8
    • Coleman, M.1    Blass, J.P.2
  • 8
    • 79960992235 scopus 로고    scopus 로고
    • Genetics and mitochondrial abnormalities in autism spectrum disorders: A review
    • 22294875 1:CAS:528:DC%2BC3MXhtVSms7fJ
    • Dhillon S, Hellings JA, Butler MG (2011) Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Curr Genomics 12(5):322-332
    • (2011) Curr Genomics , vol.12 , Issue.5 , pp. 322-332
    • Dhillon, S.1    Hellings, J.A.2    Butler, M.G.3
  • 9
    • 34250676955 scopus 로고    scopus 로고
    • Mitochondrial diseases: Therapeutic approaches
    • Di Mauro S, Mancuso M (2007) Mitochondrial diseases: therapeutic approaches. Biosci Rep 27(1-3):125-137
    • (2007) Biosci Rep , vol.27 , Issue.1-3 , pp. 125-137
    • Di Mauro, S.1    Mancuso, M.2
  • 10
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • Di Mauro S, Schon EA (2003) Mitochondrial respiratory-chain diseases. N Engl J Med 348(26):2656-2668
    • (2003) N Engl J Med , vol.348 , Issue.26 , pp. 2656-2668
    • Di Mauro, S.1    Schon, E.A.2
  • 13
    • 0036592842 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome
    • 12174964
    • Fillano JJ, Goldenthal MJ, Rhodes CH, Marín-García J (2002) Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol 17(6):435-439
    • (2002) J Child Neurol , vol.17 , Issue.6 , pp. 435-439
    • Fillano, J.J.1    Goldenthal, M.J.2    Rhodes, C.H.3    Marín-García, J.4
  • 14
    • 0035653670 scopus 로고    scopus 로고
    • Genetics of autism: Complex aetiology for a heterogeneous disorder
    • 11733747 1:CAS:528:DC%2BD38Xmt1Wgsr4%3D
    • Folstein SE, Rosen-Sheidley B (2001) Genetics of autism: complex aetiology for a heterogeneous disorder. Nat Rev Genet 2(12):943-955
    • (2001) Nat Rev Genet , vol.2 , Issue.12 , pp. 943-955
    • Folstein, S.E.1    Rosen-Sheidley, B.2
  • 15
    • 0141427915 scopus 로고    scopus 로고
    • Epidemiological surveys of autism and other pervasive developmental disorders: An update
    • 12959416
    • Fombonne E (2003) Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord 33(4):365-382
    • (2003) J Autism Dev Disord , vol.33 , Issue.4 , pp. 365-382
    • Fombonne, E.1
  • 17
    • 41849123439 scopus 로고    scopus 로고
    • Presentation and diagnosis of mitochondrial disorders in children
    • 18410845
    • Koenig MK (2008) Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol 38:305-313
    • (2008) Pediatr Neurol , vol.38 , pp. 305-313
    • Koenig, M.K.1
  • 18
    • 0027992315 scopus 로고
    • Serum serotonin, lactate and pyruvate levels in infantile autistic children
    • 7988051
    • László A, Horváth E, Eck E, Fekete M (1994) Serum serotonin, lactate and pyruvate levels in infantile autistic children. Clin Chim Acta 229(1-2):205-207
    • (1994) Clin Chim Acta , vol.229 , Issue.1-2 , pp. 205-207
    • László, A.1    Horváth, E.2    Eck, E.3    Fekete, M.4
  • 19
    • 3042819608 scopus 로고    scopus 로고
    • Should autistic children be evaluated for mitochondrial disorders?
    • 15224710
    • Lerman-Sagie T, Leshinsky-Silver E, Watemberg N, Lev D (2004) Should autistic children be evaluated for mitochondrial disorders? J Child Neurol 19(5):379-381
    • (2004) J Child Neurol , vol.19 , Issue.5 , pp. 379-381
    • Lerman-Sagie, T.1    Leshinsky-Silver, E.2    Watemberg, N.3    Lev, D.4
  • 20
    • 34548282601 scopus 로고    scopus 로고
    • Prevalence of motor impairment in autism spectrum disorders
    • 17467940
    • Ming X, Brimacombe M, Wagner GC (2007) Prevalence of motor impairment in autism spectrum disorders. Brain Dev 29:565-570
    • (2007) Brain Dev , vol.29 , pp. 565-570
    • Ming, X.1    Brimacombe, M.2    Wagner, G.C.3
  • 21
    • 73149102059 scopus 로고    scopus 로고
    • Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006
    • CDC
    • MMWR (2009; 58(No. SS-10) CDC. Prevalence of autism spectrum disorders - Autism and Developmental Disabilities Monitoring Network, United States, 2006
    • (2009) MMWR , vol.58 , Issue.10
  • 22
    • 0034951326 scopus 로고    scopus 로고
    • Clinical spectrum and diagnosis of mitochondrial disorders
    • 11579420 1:STN:280:DC%2BD3MrjtVyltw%3D%3D
    • Munnich A, Rustin P (2001) Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet 106(1):4-17
    • (2001) Am J Med Genet , vol.106 , Issue.1 , pp. 4-17
    • Munnich, A.1    Rustin, P.2
  • 23
    • 0343550525 scopus 로고    scopus 로고
    • Mitochondrial diseases in children: Neuroradiological and clinical features in 17 patients
    • 10639669 1:STN:280:DC%2BD3c7gtlymsg%3D%3D
    • Munoz A, Mateos F, Simou R, Garcia-Silva MT, Cabello S, Arenas J (1999) Mitochondrial diseases in children: neuroradiological and clinical features in 17 patients. Neuroradiology 41:920-928
    • (1999) Neuroradiology , vol.41 , pp. 920-928
    • Munoz, A.1    Mateos, F.2    Simou, R.3    Garcia-Silva, M.T.4    Cabello, S.5    Arenas, J.6
  • 24
    • 84873622303 scopus 로고    scopus 로고
    • Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism
    • 23347615 1:CAS:528:DC%2BC3sXjtlCms7Y%3D
    • Napoli E, Wong S, Giulivi C (2013) Evidence of reactive oxygen species-mediated damage to mitochondrial DNA in children with typical autism. Mol Autism 4(1):2
    • (2013) Mol Autism , vol.4 , Issue.1 , pp. 2
    • Napoli, E.1    Wong, S.2    Giulivi, C.3
  • 26
    • 42449106018 scopus 로고    scopus 로고
    • Evidence of mitochondrial dysfunction in autism and implications for treatment
    • 1:CAS:528:DC%2BD1cXhtV2lsLbF
    • Rossignol DA, Bradstreet JJ (2008) Evidence of mitochondrial dysfunction in autism and implications for treatment. A J Biochem Biotechnol 4(2):208-217
    • (2008) A J Biochem Biotechnol , vol.4 , Issue.2 , pp. 208-217
    • Rossignol, D.A.1    Bradstreet, J.J.2
  • 27
    • 84857369274 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism spectrum disorders: A systematic review and meta-analysis
    • 21263444
    • Rossignol DA, Frye RE (2011) Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry 17(3):290-314
    • (2011) Mol Psychiatry , vol.17 , Issue.3 , pp. 290-314
    • Rossignol, D.A.1    Frye, R.E.2
  • 28
    • 54949094371 scopus 로고    scopus 로고
    • Neuroimaging of mitochondrial disease
    • 18590986 1:CAS:528:DC%2BD1cXhtlaqsbjP
    • Saneto RP, Friedman SD, Shaw DW (2008) Neuroimaging of mitochondrial disease. Mitochondrion 8(5-6):396-413
    • (2008) Mitochondrion , vol.8 , Issue.5-6 , pp. 396-413
    • Saneto, R.P.1    Friedman, S.D.2    Shaw, D.W.3
  • 29
    • 42449117749 scopus 로고    scopus 로고
    • Prevalence of common mitochondrial point mutations in autism
    • Serajee FJ, Zhang H, Huq AHMM (2006) Prevalence of common mitochondrial point mutations in autism. Neuropediatrics 37(suppl 1):S127
    • (2006) Neuropediatrics , vol.37 , Issue.SUPPL. 1 , pp. 127
    • Serajee, F.J.1    Zhang, H.2    Huq, A.3
  • 30
    • 0042266280 scopus 로고    scopus 로고
    • Minimum birth prevalence of mitochondrial respiratory chain disorders in children
    • 12805096
    • Skladal D, Halliday J, Thorburn DR (2003) Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126:1905-1912
    • (2003) Brain , vol.126 , pp. 1905-1912
    • Skladal, D.1    Halliday, J.2    Thorburn, D.R.3
  • 31
    • 0041510584 scopus 로고    scopus 로고
    • Epilepsy in autism
    • 12849396
    • Tuchman R, Rapin I (2002) Epilepsy in autism. Lancet Neurol 1(6):352-358
    • (2002) Lancet Neurol , vol.1 , Issue.6 , pp. 352-358
    • Tuchman, R.1    Rapin, I.2
  • 32
  • 33
    • 0033027627 scopus 로고    scopus 로고
    • The ND1 T3308C mutation may be a mtDNA polymorphism: Report of two Portuguese patients
    • 10070626 1:STN:280:DyaK1M7mvFygsA%3D%3D
    • Vilarinho L, Chorão R, Cardoso ML, Rocha H, Nogueira C, Santorelli FM (1999) The ND1 T3308C mutation may be a mtDNA polymorphism: report of two Portuguese patients. J Inher Metab Dis 22:90-91
    • (1999) J Inher Metab Dis , vol.22 , pp. 90-91
    • Vilarinho, L.1    Chorão, R.2    Cardoso, M.L.3    Rocha, H.4    Nogueira, C.5    Santorelli, F.M.6
  • 34
    • 0141528477 scopus 로고    scopus 로고
    • Autism
    • 14550703
    • Volkmar FR, Pauls D (2003) Autism. Lancet 362:1133-1141
    • (2003) Lancet , vol.362 , pp. 1133-1141
    • Volkmar, F.R.1    Pauls, D.2
  • 36
    • 33747112788 scopus 로고    scopus 로고
    • WHO motor development study: Windows of achievement for six gross motor development milestones
    • WHO Multicentre Growth Reference Study Group
    • WHO Multicentre Growth Reference Study Group (2006) WHO motor development study: windows of achievement for six gross motor development milestones. Acta Paediatr Suppl 450:86-95
    • (2006) Acta Paediatr Suppl , vol.450 , pp. 86-95
  • 37
    • 0037069274 scopus 로고    scopus 로고
    • Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children
    • 12427891
    • Wolf NI, Smeitink JA (2002) Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. Neurology 59(9):1402-1405
    • (2002) Neurology , vol.59 , Issue.9 , pp. 1402-1405
    • Wolf, N.I.1    Smeitink, J.A.2
  • 38
    • 34648839889 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • 17885446 1:CAS:528:DC%2BD2sXht1Kku7rF
    • Zeviani M, Carelli V (2007) Mitochondrial disorders. Curr Opin Neurol 20(5):564
    • (2007) Curr Opin Neurol , vol.20 , Issue.5 , pp. 564
    • Zeviani, M.1    Carelli, V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.