메뉴 건너뛰기




Volumn 57, Issue 3, 2013, Pages 269-276

Evaluation of the child with suspected mitochondrial liver disease

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; CHLORAMPHENICOL; LACTIC ACID; MACROLIDE; MITOCHONDRIAL DNA; PROPOFOL; QUINOLONE DERIVATIVE; RINGER LACTATE SOLUTION; TETRACYCLINE; VALPROIC ACID;

EID: 84883744294     PISSN: 02772116     EISSN: 15364801     Source Type: Journal    
DOI: 10.1097/MPG.0b013e31829ef67a     Document Type: Review
Times cited : (45)

References (50)
  • 1
    • 0037972522 scopus 로고    scopus 로고
    • Mitochondrial respiratory-chain diseases
    • DOI 10.1056/NEJMra022567
    • DiMauro S, Schon EA Mitochondrial respiratory-chain diseases. N Engl J Med 2003; 348: 2656-68. (Pubitemid 36741594)
    • (2003) New England Journal of Medicine , vol.348 , Issue.26 , pp. 2656-2668
    • DiMauro, S.1    Schon, E.A.2
  • 2
    • 33748162727 scopus 로고    scopus 로고
    • Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: A study of 31 patients
    • Garcia-Cazorla A., De Lonlay P, Rustin P, et al. Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue: a study of 31 patients. J Pediatr 2006; 149: 401e3-5e3.
    • (2006) J Pediatr , vol.149
    • Garcia-Cazorla, A.1    De Lonlay, P.2    Rustin, P.3
  • 3
    • 41949098832 scopus 로고    scopus 로고
    • The in-depth evaluation of suspected mitochondrial disease
    • Haas RH, Parikh S, Falk M.J., et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008; 94: 16-37.
    • (2008) Mol Genet Metab , vol.94 , pp. 16-37
    • Haas, R.H.1    Parikh, S.2    Falk, M.J.3
  • 5
    • 64449087543 scopus 로고    scopus 로고
    • Clinical and molecular features of mitochondrial DNA depletion syndromes
    • Spinazzola A, Invernizzi F, Carrara F., et al. Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis 2009; 32: 143-58.
    • (2009) J Inherit Metab Dis , vol.32 , pp. 143-158
    • Spinazzola, A.1    Invernizzi, F.2    Carrara, F.3
  • 6
    • 77956255221 scopus 로고    scopus 로고
    • Molecular genetics of mitochondrial disorders
    • Wong L-JC. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev 2010; 16: 154-62.
    • (2010) Dev Disabil Res Rev , vol.16 , pp. 154-162
    • Wong, L.-J.C.1
  • 7
    • 78650702096 scopus 로고    scopus 로고
    • Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
    • Kemp JP, Smith PM, Pyle A, et al Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain 2011; 134: 183-95.
    • (2011) Brain , vol.134 , pp. 183-195
    • Kemp, J.P.1    Smith, P.M.2    Pyle, A.3
  • 8
    • 34250302680 scopus 로고    scopus 로고
    • Mitochondrial hepatopathies: Advances in genetics and pathogenesis
    • DOI 10.1002/hep.21710
    • Lee WS, Sokol RJ Mitochondrial hepatopathies: advances in genetics and pathogenesis. Hepatology 2007; 45: 1555-65. (Pubitemid 46918340)
    • (2007) Hepatology , vol.45 , Issue.6 , pp. 1555-1565
    • Lee, W.S.1    Sokol, R.J.2
  • 9
    • 77957554125 scopus 로고    scopus 로고
    • Pathophysiology of fatty acid oxidation disorders
    • Bennett MJ. Pathophysiology of fatty acid oxidation disorders. J Inherit Metab Dis 2010; 33: 533-7.
    • (2010) J Inherit Metab Dis , vol.33 , pp. 533-537
    • Bennett, M.J.1
  • 10
    • 0025694816 scopus 로고
    • The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states
    • Bonnefont JP, Specola NB, Vassault A, et al The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. Eur J Pediatr 1990; 150: 80-5.
    • (1990) Eur J Pediatr , vol.150 , pp. 80-85
    • Bonnefont, J.P.1    Specola, N.B.2    Vassault, A.3
  • 11
    • 58849102108 scopus 로고    scopus 로고
    • Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: A diagnostic strategy
    • Wortmann SB, Rodenburg RJT, Jonckheere A, et al. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain 2009; 132: 136-46.
    • (2009) Brain , vol.132 , pp. 136-146
    • Wortmann, S.B.1    Rodenburg, R.J.T.2    Jonckheere, A.3
  • 12
    • 77956251381 scopus 로고    scopus 로고
    • Polymerase gamma disease through the ages
    • Saneto RP, Naviaux RK Polymerase gamma disease through the ages. Dev Disabil Res Rev 2010; 16: 163-74.
    • (2010) Dev Disabil Res Rev , vol.16 , pp. 163-174
    • Saneto, R.P.1    Naviaux, R.K.2
  • 13
    • 80955158521 scopus 로고    scopus 로고
    • Mitochondrial DNA polymerase g mutations: An ever expanding molecular and clinical spectrum
    • Tang S, Wang J, Lee N-C, et al. Mitochondrial DNA polymerase g mutations: an ever expanding molecular and clinical spectrum. J Med Genet 2011; 48: 669-81.
    • (2011) J Med Genet , vol.48 , pp. 669-681
    • Tang, S.1    Wang, J.2    Lee, N.-C.3
  • 14
    • 38949188752 scopus 로고    scopus 로고
    • Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
    • Dimmock DP, Zhang Q, Dionisi-Vici C, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008; 29: 330-1.
    • (2008) Hum Mutat , vol.29 , pp. 330-331
    • Dimmock, D.P.1    Zhang, Q.2    Dionisi-Vici, C.3
  • 15
    • 21844449982 scopus 로고    scopus 로고
    • Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency
    • DOI 10.1016/j.jhep.2005.03.023, PII S0168827805002990
    • Labarthe F, Dobbelaere D, Devisme L., et al. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency. J Hepatol 2005; 43: 333-41. (Pubitemid 40956888)
    • (2005) Journal of Hepatology , vol.43 , Issue.2 , pp. 333-341
    • Labarthe, F.1    Dobbelaere, D.2    Devisme, L.3    De Muret, A.4    Jardel, C.5    Taanman, J.-W.6    Gottrand, F.7    Lombes, A.8
  • 16
    • 79953701106 scopus 로고    scopus 로고
    • Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure
    • Pronicka E, Weglewska-Jurkiewicz A, Taybert J., et al. Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. J Appl Genet 2011; 52: 61-6.
    • (2011) J Appl Genet , vol.52 , pp. 61-66
    • Pronicka, E.1    Weglewska-Jurkiewicz, A.2    Taybert, J.3
  • 17
    • 33646376465 scopus 로고    scopus 로고
    • MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
    • Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006; 38: 570-5.
    • (2006) Nat Genet , vol.38 , pp. 570-575
    • Spinazzola, A.1    Viscomi, C.2    Fernandez-Vizarra, E.3
  • 19
    • 77955151559 scopus 로고    scopus 로고
    • Succinyl-coa ligase deficiency: A mitochondrial hepatoencephalomyopathy
    • Van Hove J.L., Saenz MS, Thomas J.A., et al. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res 2010; 68: 159-64.
    • (2010) Pediatr Res , vol.68 , pp. 159-164
    • Van Hove, J.L.1    Saenz, M.S.2    Thomas, J.A.3
  • 20
    • 35649024143 scopus 로고    scopus 로고
    • Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
    • DOI 10.1093/brain/awm242
    • Hakonen AH, Isohanni P, Paetau A., et al. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 2007; 130: 3032-40. (Pubitemid 350033977)
    • (2007) Brain , vol.130 , Issue.11 , pp. 3032-3040
    • Hakonen, A.H.1    Isohanni, P.2    Paetau, A.3    Herva, R.4    Suomalainen, A.5    Lonnqvist, T.6
  • 22
    • 0036140895 scopus 로고    scopus 로고
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients
    • DOI 10.1542/peds.109.1.99
    • den Boer MEJ, Wanders RJA, Morris AAM, et al. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 2002; 109: 99-104. (Pubitemid 34049432)
    • (2002) Pediatrics , vol.109 , Issue.1 , pp. 99-104
    • Den Boer, M.E.J.1    Wanders, R.J.A.2    Morris, A.A.M.3    Ijlst, L.4    Heymans, H.S.A.5    Wijburg, F.A.6
  • 25
    • 33646408518 scopus 로고    scopus 로고
    • Electron transfer flavoprotein deficiency: Functional and molecular aspects
    • Schiff M, Froissart R, Olsen RKJ, et al. Electron transfer flavoprotein deficiency: functional and molecular aspects. Mol Genet Metab 2006; 88: 153-8.
    • (2006) Mol Genet Metab , vol.88 , pp. 153-158
    • Schiff, M.1    Froissart, R.2    Olsen, R.K.J.3
  • 28
    • 79955799806 scopus 로고    scopus 로고
    • Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations
    • Schara U, von Kleist-Retzow JC, Lainka E, et al. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. J Inherit Metab Dis 2011; 34: 197-201.
    • (2011) J Inherit Metab Dis , vol.34 , pp. 197-201
    • Schara, U.1    Von Kleist-Retzow, J.C.2    Lainka, E.3
  • 29
    • 69649100936 scopus 로고    scopus 로고
    • Acute infantile liver failure due to mutations in the TRMU gene
    • Zeharia A, Shaag A, Pappo O., et al. Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet 2009; 85: 401-7.
    • (2009) Am J Hum Genet , vol.85 , pp. 401-407
    • Zeharia, A.1    Shaag, A.2    Pappo, O.3
  • 31
    • 84875916628 scopus 로고    scopus 로고
    • Measuring oxidative phosphorylation in human skin fibroblasts
    • Ye F, Hoppel CL Measuring oxidative phosphorylation in human skin fibroblasts. Anal Biochem 2013; 437: 52-8.
    • (2013) Anal Biochem , vol.437 , pp. 52-58
    • Ye, F.1    Hoppel, C.L.2
  • 32
    • 77955425763 scopus 로고    scopus 로고
    • Characterization of complex III deficiency and liver dysfuntion in GRACILE syndryome caused by a BCS1L mutation
    • Kotarsky H, Karikoski R, Morgelin M., et al. Characterization of complex III deficiency and liver dysfuntion in GRACILE syndryome caused by a BCS1L mutation. Mitochondrion 2010; 10: 497-509.
    • (2010) Mitochondrion , vol.10 , pp. 497-509
    • Kotarsky, H.1    Karikoski, R.2    Morgelin, M.3
  • 33
    • 0033754154 scopus 로고    scopus 로고
    • Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
    • Valnot I, Osmond S, Gigarel N., et al. Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet 2000; 67: 1104-9.
    • (2000) Am J Hum Genet , vol.67 , pp. 1104-1109
    • Valnot, I.1    Osmond, S.2    Gigarel, N.3
  • 34
    • 83555162510 scopus 로고    scopus 로고
    • Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure
    • Vedrenne V, Galmiche L, Chretien D., et al. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. J Hepatol 2012; 56: 294-7.
    • (2012) J Hepatol , vol.56 , pp. 294-297
    • Vedrenne, V.1    Galmiche, L.2    Chretien, D.3
  • 35
    • 58349099821 scopus 로고    scopus 로고
    • Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
    • Lee NC, Dimmock D, Hwu W.L., et al. Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation. Arch Dis Child 2009; 94: 55-8.
    • (2009) Arch Dis Child , vol.94 , pp. 55-58
    • Lee, N.C.1    Dimmock, D.2    Hwu, W.L.3
  • 36
    • 70649092386 scopus 로고    scopus 로고
    • Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
    • Smet J, Seneca S, De Paepe B, et al. Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA. Electrophoresis 2009; 30: 3565-72.
    • (2009) Electrophoresis , vol.30 , pp. 3565-3572
    • Smet, J.1    Seneca, S.2    De Paepe, B.3
  • 37
    • 0036736426 scopus 로고    scopus 로고
    • Diagnosis and management of MNGIE syndrome in children: Case report and review of the literature
    • Teitelbaum JE, Berde CB, Nurko S, et al Diagnosis and Management of MNGIE Syndrome in Children: case report and review of the literature. J Pediatr Gastroenterol Nutr 2002; 35: 377-83.
    • (2002) J Pediatr Gastroenterol Nutr , vol.35 , pp. 377-383
    • Teitelbaum, J.E.1    Berde, C.B.2    Nurko, S.3
  • 38
    • 84867131148 scopus 로고    scopus 로고
    • Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile alpers encephalopathy
    • Elo JM, Yadavalli SS, Euro L, et al Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Hum Mol Genet 2012; 21: 4521-9.
    • (2012) Hum Mol Genet , vol.21 , pp. 4521-4529
    • Elo, J.M.1    Yadavalli, S.S.2    Euro, L.3
  • 39
    • 84859436493 scopus 로고    scopus 로고
    • CoQ(10) deficiencies and MNGIE: Two treatable mitochondrial disorders
    • Hirano M, Garone C, Quinzii CM CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. Biochim Biophys Acta 2012; 1820: 625-31.
    • (2012) Biochim Biophys Acta , vol.1820 , pp. 625-631
    • Hirano, M.1    Garone, C.2    Quinzii, C.M.3
  • 41
    • 79955140404 scopus 로고    scopus 로고
    • Case records of the massachusetts general hospital. Case 12-2011. A 9-month-old boy with acute liver failure
    • Fearing MK, Israel EJ, Sahai I, et al Case records of the Massachusetts General Hospital. Case 12-2011. A 9-month-old boy with acute liver failure. N Engl J Med 2011; 364: 1545-56.
    • (2011) N Engl J Med , vol.364 , pp. 1545-1556
    • Fearing, M.K.1    Israel, E.J.2    Sahai, I.3
  • 42
    • 84863012272 scopus 로고    scopus 로고
    • Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing
    • Calvo SE, Compton AG, Hershman S.G., et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012; 4: 118ra10.
    • (2012) Sci Transl Med , vol.4
    • Calvo, S.E.1    Compton, A.G.2    Hershman, S.G.3
  • 43
    • 84879121718 scopus 로고    scopus 로고
    • Targeted exome sequencing of suspected mitochondrial disorders
    • Lieber DS, Calvo SE, Shanahan K, et al Targeted exome sequencing of suspected mitochondrial disorders. Neurology 2013; 80: 1762-70.
    • (2013) Neurology , vol.80 , pp. 1762-1770
    • Lieber, D.S.1    Calvo, S.E.2    Shanahan, K.3
  • 44
    • 57849144280 scopus 로고    scopus 로고
    • Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency
    • Dimmock DP, Dunn JK, Feigenbaum A, et al Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl 2008; 14: 1480-5.
    • (2008) Liver Transpl , vol.14 , pp. 1480-1485
    • Dimmock, D.P.1    Dunn, J.K.2    Feigenbaum, A.3
  • 45
    • 0031899233 scopus 로고    scopus 로고
    • Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood
    • DOI 10.1097/00005176-199804000-00024
    • Thomson M, McKiernan P, Buckels J., et al. Generalised mitochondrial cytopathy is an absolute contraindication to orthotopic liver transplant in childhood. J Pediatr Gastroenterol Nutr 1998; 26: 478-81. (Pubitemid 28160703)
    • (1998) Journal of Pediatric Gastroenterology and Nutrition , vol.26 , Issue.4 , pp. 478-481
    • Thomson, M.1    McKiernan, P.2    Buckels, J.3    Mayer, D.4    Kelly, D.5
  • 47
    • 0032722918 scopus 로고    scopus 로고
    • Liver transplantation in mitochondrial respiratory chain disorders
    • Sokal EM, Sokol R, Cormier V., et al. Liver transplantation in mitochondrial respiratory chain disorders. Eur J Pediatr 1999; 158:S81-4.
    • (1999) Eur J Pediatr , vol.158
    • Sokal, E.M.1    Sokol, R.2    Cormier, V.3
  • 48
    • 77956249281 scopus 로고    scopus 로고
    • Pharmacologic effects on mitochondrial function
    • Cohen BH. Pharmacologic effects on mitochondrial function. Dev Disabil Res Rev 2010; 16: 189-99.
    • (2010) Dev Disabil Res Rev , vol.16 , pp. 189-199
    • Cohen, B.H.1
  • 49
    • 34250633616 scopus 로고    scopus 로고
    • Propofol infusion syndrome
    • DOI 10.1111/j.1365-2044.2007.05055.x
    • Kam PCA, Cardone D. Propofol infusion syndrome. Anaesthesia 2007; 62: 690-701. (Pubitemid 46929963)
    • (2007) Anaesthesia , vol.62 , Issue.7 , pp. 690-701
    • Kam, P.C.A.1    Cardone, D.2
  • 50
    • 70350136445 scopus 로고    scopus 로고
    • A modern approach to the treatment of mitochondrial disease
    • Parikh S, Saneto R, Falk M.J., et al. A modern approach to the treatment of mitochondrial disease. Curr Treat Options Neurol 2009; 11: 414-30.
    • (2009) Curr Treat Options Neurol , vol.11 , pp. 414-430
    • Parikh, S.1    Saneto, R.2    Falk, M.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.