Riboflavine-response Leigh syndrome and leukodystrophy associated to partial succinate dehydrogenase deficiency;Syndrome de Leigh et leucodystrophie par deficit partiel en succinate deshydrogenase: Regression sous riboflavine

Archives de Pediatrie

Volumn 6, Issue 4, 1999, Pages 421-426

  Pinard, J M ^a   Marsac, C ^d   Barkaoui, E ^a   Desguerre, I ^b   Birch Machin, M ^e   Reinert, P ^c   Ponsot, G ^b  

^a RAYMOND POINCARÉ HOSPITAL   (France)

^b HÔPITAL SAINT VINCENT DE PAUL   (France)

^c CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^d INSERM   (France)

^e University Department of Dermatology   (United Kingdom)

Author keywords

Brain diseases, metabolic; Child; Mitochondria; Riboflavin; Succinate dehydrogenase

Indexed keywords

RIBOFLAVIN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CASE REPORT; CHILD; DISEASE ASSOCIATION; ENZYME DEFICIENCY; HUMAN; LEIGH DISEASE; LEUKODYSTROPHY; MALE; MITOCHONDRION; NUCLEAR MAGNETIC RESONANCE IMAGING; PROGNOSIS; SPECTROPHOTOMETRY;

EID: 0004890273     PISSN: 0929693X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-693X(99)80224-3     Document Type: Article

References (15)

1. 1 Ponsot G, Desguerre I, Rodriguez D, Moutard ML. Manifestations neurologiques des maladies mitochondriales. Méd Thér 1995; 1 : 449-63.
2. 2 Bourgeron T, Rustin P, Chrétien D, Birch-Machin M, Bourgeois M, Viegas-Pequinot E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet 1995 ; 11 : 144-9.
3. 3 Bourgeois M, Goutières F, Chrétien D, Rustin P, Munnich A, Ricardi J. Deficiency in complex II of the respiratory chain, presenting as a leukodystrophy in two sisters with Leigh syndrome. Brain Dev 1992 ; 14 : 404-8.
4. 4 Riggs JE, Schochet SS, Fakadej AV, Papadimitriou A, DiMauro S, Crosby TW, et al. Mitochondrial encephalomyopathy with decreased succinate cytochrome c reductase activity. Neurology 1984 ; 34 : 48-53.
5. 5 Rivner MH, Shamsnia M, Swift TR, Trefz J, Rolsel RA, Cartel AL, et al. Kearns-Sayre syndrome and complex II deficiency. Neurology 1989 ; 39 : 693-6.
6. 6 Linderholm H, Essen-Gustavsson B, Thornell L-E. Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobiniuria. J Intern Med 1990 ; 228 : 43-52.
7. 7 Reichmann H, Angelini C. Single muscle fibre analyses in 2 brothers with succinate dehydrogenase deficiency. Eur Neurol 1994 ; 34 : 95-8.
8. 8 Rustin P, Lebidois J, Chrétien D, Bourgeron T, Pichaud JF, Rotig A, et al. The investigation of respiratory chain disorders in heart using endomyocardial biopsies. J Inherit Metab Dis 1993 ; 16 : 541-4.
9. 9 Hall RE, Henriksson KG, Lewis SF, Haller RG, Kennaway NG. Mitochondrial myopathy with succinate deshydrogenase and aconitase deficiency. Abnomalities of several iron-sulfur-proteins. J Clin Invest 1993 ; 92 : 2660-6.
10. 10 Desnuelle C, Birch-Machin M, Pellissier J-F, Bindoff LA, Ackrell BA, Turnbull DM. Multiple defects of the respiratory chain including complex II in a family with myopathy and encephalopathy. Biochem Biophys Res Commun 1989 ; 163 : 695-700.
11. 11 Sengers RC, Fischer JC, Trijbels JM, Ruitenbeck W, Stadhouders AM, Ter-Laak HS, et al. A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency. Eur J Pediatr 1983 ; 140 : 332-7.
12. 12 Arpa J, Campos Y, Gutierrez-Molina M, Cruz-Martinez A, Arenas J, Carninero AB, et al. Benign mitochondrial myopathy with decreased succinate-cytochrome c reductase activity. Acta Neurol Scand 1994 ; 90 : 281-4.
13. 13 Taylor RW, Birch-Machin MA, Schaefer J, Taylor L, Shakir R, Ackrell BA, et al. Deficiency of complex II of the mitochondrial respiratory chain in late-onset optic atrophy and ataxia. Ann Neurol 1996. 39 ; 224-32.
14. 14 Bernsen PL, Gabreels JF, Ruitenbeek W, Hamburger HL. Treatment of complex I deficiency with riboflavin. J Neurol Sci 1993 ; 118 : 181-7.
15. 15 Birch-Machin MA, Marsac C, Ponsot G, Parfait B, Taylor RW, Rustin P, et al. Biochemical investigations and immunoblot analyses of two unrelated patients with an isolated deficiency in complex II of the mitochondrial respiratory chain. Biochem Biophys Res Commun 1996 ; 220 : 57-62.