Journal of Bioenergetics and Biomembranes

, Volume 20, Issue 3, pp 313–323 | Cite as

Cell culture studies on patients with mitochondrial diseases: Molecular defects in pyruvate dehydrogenase

  • Brian H. Robinson


There is a group of inborn errors of metabolism that result in the condition of chronic lacticacidemia of childhood. Nearly all of the defects that can be identified occur in mitochondrial proteins, and can be demonstrated in cultured skin fibroblasts from the patients concerned. One approach to the diagnosis of these defects involves a simple incubation of the fibroblast culture with glucose-containing medium followed by the measurement of accumulated lactate and pyruvate. The total amounts of lactate and pyruvate and the ratio between them is different in cells from patients with defects in the pyruvate dehydrogenase complex or the respiratory chain. Measurement of 1-14C-pyruvate oxidation to14CO2 can also reveal defective oxidative metabolism. Localization of the defects can be achieved using individual assays for the enzymes concerned. The clinical sequelae of the different defects is discussed.

Key Words

Chronic lacticacidemia mitochondrial proteins skin fibroblasts 


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Copyright information

© Plenum Publishing Corporation 1988

Authors and Affiliations

  • Brian H. Robinson
    • 1
    • 2
  1. 1.Department of Pediatrics and BiochemistryUniversity of TorontoTorontoCanada
  2. 2.The Hospital for Sick ChildrenThe Research InstituteTorontoCanada

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