Journal of Inherited Metabolic Disease

, Volume 19, Issue 5, pp 675–686

NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

  • S. Pitkanen
  • A. Feigenbaum
  • R. Laframboise
  • B. H. Robinson
Article

DOI: 10.1007/BF01799845

Cite this article as:
Pitkanen, S., Feigenbaum, A., Laframboise, R. et al. J Inherit Metab Dis (1996) 19: 675. doi:10.1007/BF01799845
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Summary

Twelve patient cell lines with biochemically proven complex I deficiency were compared for clinical presentation and outcome, together with their sensitivity to galactose and menadione toxicity. Each patient had elevated lactate to pyruvate ratios demonstrable in fibroblast cultures. Each patient also had decreased rotenone-sensitive NADH-cytochromec reductase (complexes I and III) with normal succinate cytochromec reductase (complexes II and III) and cytochrome oxidase (complex IV) activity in cultured skin fibroblasts, indicating a deficient NADH-coenzyme Q reductase (complex I) activity. The patients fell into five categories: severe neonatal lactic acidosis; Leigh disease; cardiomyopathy and cataracts; hepatopathy and tubulopathy; and mild symptoms with lactic acidaemia. Cell lines from 4 out of the 12 patients were susceptible to both galactose and menadione toxicity and 3 of these also displayed low levels of ATP synthesis in digitonin-permeabilized skin fibroblasts from a number of substrates. This study highlights the heterogeneity of complex I deficiency at the clinical and biochemical level.

Copyright information

© SSIEM and Kluwer Academic Publishers 1996

Authors and Affiliations

  • S. Pitkanen
    • 1
  • A. Feigenbaum
    • 1
  • R. Laframboise
    • 2
  • B. H. Robinson
    • 1
  1. 1.Departments of Pediatrics and BiochemistryUniversity of Toronto and The Research Institute, Hospital for Sick ChildrenToronto
  2. 2.Médecine GénétiqueLe Centre Hospitalier de L'Université LavalSte-FoyCanada

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