Diagnostic criteria for respiratory chain disorders in adults and children

Neurology

Volumn 59, Issue 9, 2002, Pages 1406-1411

  Bernier, F P ^a,e   Boneh, A ^b,c   Dennett, X ^c   Chow, C W ^c,d   Cleary, M A ^b,f   Thorburn, D R ^a,b,c,d  

^a MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^b Genetic Health Services Victoria   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e UNIVERSITY OF CALGARY   (Canada)

^f Willink Biochemical Genetics Unit   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC APPROACH ROUTE; DISEASE CLASSIFICATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ASSAY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MEDICAL RECORD; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY;

EID: 0037069229     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000033795.17156.00     Document Type: Article

References (26)

1. Munnich A, Rotig A, Chretien D, et al. Clinical presentation of mitochondrial disorders in childhood. J Inherit Metab Dis 1996;19:521-527.
2. Trijbels JMF, Scholte HR, Ruitenbeek W, Sengers RCA, Janssen AJM, Busch HFM. Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies. Eur J Pediatr 1993;152:178-184.
3. Thorburn DR. Practical problems in detecting abnormal mitochondrial functions and genomes. Hum Reprod 2000;15(suppl 2):57-67.
4. Thorburn DR, Smeitink J. Diagnosis of mitochondrial disorders: Clinical and biochemical approach. J Inherit Metab Dis 2001;24:312-316.
5. Walker UA, Collins S, Byrne E. Respiratory chain encephalomyopathies: A diagnostic classification. Eur Neurol 1996;36:260-267.
6. Rahman S, Blok RB, Dahl HHM, et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343-351.
7. Kirby DM, Crawford M, Cleary MA, Dahl HHM, Dennett X, Thorburn DR. Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder. Neurology 1999;52:1255-1264.
8. Laubscher B, Janzer RC, Krahenbuhl S, Hirt L, Deonna T. Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita. Pediatr Neurol 1997;17:249-251.
9. Sue CM, Hirano M, DiMauro S, De Vivo DC. Neonatal presentations of mitochondrial metabolic disorders. Semin Perinatol 1999;23:113-124.
10. Chow CW, Thorburn DR. Morphological correlates of mitochondrial dysfunction. Hum Reprod 2000;15(suppl 2):68-78.
11. Shoffner JM. Maternal inheritance and the evaluation of oxidative phosphorylation diseases. Lancet 1996;348:1283-1288.
12. Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE. Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child 1998;79:22-27.
13. Liang MH, Wong LJ. Yield of mtDNA mutation analysis in 2,000 patients. Am J Med Genet 1998;77:395-400.
14. Munnich A, Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet (Semin Med Genet) 2001;106:4-17.
15. Taivassalo T, Abbott A, Wyrick P, Haller RG. Venous oxygen levels during aerobic forearm exercise: an index of impaired oxidative metabolism in mitochondrial myopathy. Ann Neurol 2002;51:38-44.
16. Tulinius MH, Holme E, Kristiansson B, Larsson NG, Oldfors A. Mitochondrial encephalomyopathies in childhood:1. Biochemical and morphologic investigations J Pediatr 1991;119:242-250.
17. Bourgeron T, Chretien D, Rotig A, Munnich A, Rustin P. Isolation and characterization of mitochondria from human B-lymphoblastoid cell lines. Biochem Biophys Res Commun 1992;186:16-23.
18. Robinson BH. Human complex I deficiency: Clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1998;1364:271-286.
19. Trijbels FJ, Ruitenbeek W, Huizing M, Wendel U, Smeitink JA, Sengers RC. Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex. Mol Cell Biochem 1997;174:243-247.
20. Morris AA, Leonard JV, Brown GK, et al. Deficiency of respiratory chain complex I is a common cause of Leigh disease. Ann Neurol 1996;40:25-30.
21. Zheng X, Shoffner JM, Voljavec AS, Wallace DC. Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta 1990;1019:1-10.
22. Pitkanen S, Merante F, Mcleod DR, Applegarth D, Tong T, Robinson BH. Familial cardiomyopathy with cataracts and lactic acidosis: A defect in complex I (NADH-dehydrogenase) of the mitochondria respiratory chain. Pediatr Res 1996;39:513-521.
23. Birch-Machin MA, Briggs HL, Saborido AA, Bindoff LA, Turnbull DM. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria. Biochem Med Metab Biol 1994;51:35-42.
24. Bentlage HA, Wendel U, Schagger H, ter Laak HJ, Janssen AJ, Trijbels JM. Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle. Neurology 1996;47:243-248.
25. Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 1997;17:215-217.
26. Chretien D, Rustin P, Bourgeron T, Rotig A, Saudubray JM,Munnich A. Reference charts for respiratory chain activities in human tissues. Clin Chim Acta 1994;228:53-70.