Clinical presentations and laboratory investigations in respiratory chain deficiency

European Journal of Pediatrics

Volumn 155, Issue 4, 1996, Pages 262-274

  Munnich, Arnold ^a   Rötig, Agnès ^a   Chretien, Dominique ^a   Saudubray, JeanMarie ^a   Cormier, Valérie ^a   Rustin, Pierre ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Metabolic diseases; Mitochondrial disorders; Oxidative phosphorylation; Respiratory chain deficiency

Indexed keywords

2 CHLOROPROPIONIC ACID; BICARBONATE; CHLORAMPHENICOL; DICHLOROACETIC ACID; MENADIONE; RIBOFLAVIN; TETRACYCLINE; UBIQUINONE; UNCLASSIFIED DRUG; VALPROIC ACID;

DIAGNOSTIC TEST; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETIC COUNSELING; GENETICS; HUMAN; METABOLIC DISORDER; MUTATION; OXIDATIVE PHOSPHORYLATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGNOSIS; RESPIRATORY CHAIN; RESPIRATORY CHAIN DEFICIENCY; REVIEW; SCREENING; SYMPTOMATOLOGY;

EID: 0029939378     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02002711     Document Type: Review

References (28)

1. Bolhuis PA, Hensels GW, Hulsebos TJM, Baas F, Barth PG (1991) Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28. Am J Hum Genet 48 : 481-485
2. Bonnefont JP, Chretien D, Rustin P, Robinson BH, Aupetit J, Vassault A, Rabier D, Ogier H, Saudubray JM, Munnich A (1992) 2-ketoglutarate dehydrogenase deficiency: a rare inherited defect of the Krebs cycle. J Pediatr 121 : 255-258
3. Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P (1992) Isolation and characterization of mitochondria from human B lymphoblastoid cell lines. Biochem Biophys Res Commun 186 : 16-23
4. Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P (1993) Fate and expression of the deleted mitochondrial DNA differ between heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures. J Biol Chem 268 : 19369-19376
5. Chabrol B, Mancini J, Chretien D, Rustin P, Munnich A, Pinsard N (1994) Cytochrome c oxidase defect, fatal hepatic failure and valproate: a case report. Eur J Pediatr 153 : 133-135
6. Clayton Da (1991) Replication and transcription of vertebrate mitochondrial DNA. Ann Rev Cell Biol 7 : 453-478
7. Cormier V, Rustin P, Bonnefont JP, Rambaud C, Couderc S, Parrot-Roulaud F, Carré M, Risse JC, Cahuzac C, Saudubray JM, Rötig A, Hubert P, Munnich A (1991) Hepatic failure in neonatal-onset disorders of oxidative phosphorylation. J Pediatr 119 : 951-954
8. Cormier-Daire V, Bonnefont JP, Rustin P, Maurage C, Ogier H, Schmitz J, Ricour C, Saudubray JM, Munnich A, Rötig A (1994) Deletion-duplication of the mitochondrial DNA presenting as chronic diarrhea with villous atrophy. J Pediatr 124 : 63-70
9. Estabrook RW (1967) Mitochondrial respiratory control and the polarographic measurement of ADP/O ratios. Methods Enzymol 10 : 41-47
10. Gérard B, Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P (1992) Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts.Eur J Pediatr 152 : 270
11. Hammans SR, Morgan-Hughes JA (1994) Mitochondrial myopathies: clinical features, investigation, treatment and genetic counselling. In: Schapira AHV, DiMauro S (eds) Mitochondrial disorders in neurology. Buttherworth-Enemann, Stoneham, MA, pp 49-74
12. Hatefi Y (1985) The mitochondrial electron transport and oxidative phosphorylation system. Ann Rev Biochem 54 : 1015-1069
13. Holt IJ, Harding AE, Petty RKH, Morgan-Hughes JA (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 46 : 428-433
14. Moraes CT, Shanske S, Trischler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial disease. Am J Hum Genet 48 : 492-501
15. Rötig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, Munnich A (1990) Pearson's marrow-pancreas syndrome: a multisystem mitochondrial disorder in infancy. J Clin Invest 86 : 1601-1608
16. Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A (1991) Maternally inherited duplication of the mitochondrial DNA in proximal tubulopathy with diabetes mellitus. Am J Hum Genet 50 : 364-370
17. Rötig A, Cormier V, Chatelain P, François C, Saudubray JM, Rustin P, Munnich A (1993) Deletion of the mitochondrial DNA in a case of early-on-set diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome). J Clin Invest 91 : 1095-1098
18. Rustin P, Chretien D, Bourgeron T, Wucher A, Saudubray JM, Rötig A, Munnich A (1991) Assessment of the mitochondrial respiratory chain. Lancet 338 : 60
19. Rustin P, Chretien D, Gérard B, Bourgeron T, Rötig A, Saudubray JM, Munnich A (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 220 : 35-51
20. Rustin P, LeBidois J, Chretien D, Bourgeron T, Piéchaud JF, Rötig A, Munnich A, Sidi D (1994) Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. J Pediatr 124 : 224-228
21. Saudubray JM, Marsac C, Cathelineau CL (1989) Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings. Acta Paediatr Scand 65 : 717-724
22. Saunier P, Chretien D, Wood C, Rötig A, Bonnefont JP, Saudubray JM, Rabier D, Munnich A, Rustin P (1995) Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuria. Neuromuscul Disord 5 : 285-289
23. Stacpoole P, Harman LM, Curry SH, Baumgartner TG, Misbin RI (1993) Treatment of lactic acidosis with dichloroacetate. N Engl J Med 309 : 390-396
24. Wallace DC (1992) Diseases of the mitochondrial DNA. Annu Rev Biochem 61 : 1175-1212
25. Zeviani M, Servidei S, Gellera C, Bertini E, DiMauro S, DiDonato S (1989) An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. Nature 339 : 309-311
26. Suomalainen A, Kaukonen J, Amati P, Timonen R, Haltia M, Weissenbach J, Zeviani M, Somer H, Peltonen L (1995) An autosomal locus predisposing to deletions of mitochondrial DNA. Nat Genet 9 : 146-151
27. Vilkki J, Ott J, Savontaus M-L, Aula P, Nikoskelainen EK (1991) Optic atrophy in Leber hereditary neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7. Am J Hum Genet 48 : 486-491
28. Bourgeron T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Munnich A, Rötig A (1995) Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 11 : 144-149