Abstract
NADH: Q1 oxidoreductase (complex I; E.C. 1.6.99.3) deficiency (McKusick 31245), one of the more common respiratory chain defects, has been described in about 40 patients. Different clinical syndromes can be distinguished (DiMauro et al.,1987). In neonates complex I deficiency can present as a multisystem disorder characterized by severe lactic acidosis, hypotonia, seizures and respiratory insufficiency. This type has been described in eight patients and seems usually to be fatal due to uncontrollable lactic acidosis and systemic complications. Results of treatment have been generally disappointing although some encouraging results were obtained (Arts et al., 1983). We report a family in which we demonstrated complex I deficiency in two children while four others have a clinical history suggesting the same defect. We treated one infant with a multisystem disorder with severe congenital lactic acidosis. Initially treatment was by artificial respiration and peritoneal dialysis, subsequently by high doses of menadione. A remarkable recovery was observed.
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References
Arts, W. F. M., Scholte, H. R., Bogaard, J. M., Kerrebijn, K. F. and Luyt-Houwen, E. M. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet 2 (1983) 581–582
Conover, T. E. and Ernster, L. DT diaphorase. II Relation to respiratory chain of intact mitochondria. Biochim. Biophys. Acta 58 (1962) 189–200
DiMauro, S., Bonilla, E., Zeviani, M., Servidei, S., DeVivo, D. C. and Schon, E. A. Mitochondrial myopathies. J. Inher. Metab. Dis. 10 Suppl. 1 (1987) 113–128
Eleff, S., Kennaway, N. G., Buist, N. R. M., Darley-Usmar, V. M., Capaldi, R. A., Bank, W. J. and Chance, B. 31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle. Proc. Natl. Acad. Sci. USA 81 (1984) 3529–3533
Fischer, J. C., Ruitenbeek, W., Gabreëls, F. J. M., Janssen, A. J. M., Renier, W. O., Sengcrs, R. C. A., Stadhouders, A. M., TerLaak, H. J., Trijbels, J. M. F. and Veerkamp, J. H. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur. J. Pediatr. 144 (1986) 441–444
Land, J. M., Hockaday, J. M., Trevor Hughes, J. and Ross, B. D. Childhood mitochondrial myopathy with ophthalmoplegia. J. Neurol. Sci. 51 (1981) 371–382
Morgan-Hughes, J. A., Hayes, D. J., Clark, J. B. and Cooper, J. M. Mitochondrial myopathies. Results of exploratory therapeutical trials. In Folkers, K. and Yatnamura, Y. (eds.), Biochemical and Clinical Aspects of Coenzyme Q. Vol. 4, Elsevier Science Publishers, Amsterdam, 1984, pp. 417–424
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© 1989 SSIEM and Kluwer Academic Publishers
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Wijburg, F.A. et al. (1989). Familial NADH: Q1 Oxidoreductase (Complex I) Deficiency: Variable Expression and Possible Treatment. In: Addison, G.M., Connor, J.M., Harkness, R.A., Pollitt, R.J. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1069-0_48
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DOI: https://doi.org/10.1007/978-94-009-1069-0_48
Publisher Name: Springer, Dordrecht
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