European Journal of Pediatrics

, Volume 140, Issue 2, pp 98–101

Lacticacidosis, neurological deterioration and compromised cellular pyruvate oxidation due to a defect in the reoxidation of cytoplasmically generated NADH

  • B. H. Robinson
  • Jennifer Taylor
  • B. Francois
  • A. L. Beaudet
  • D. F. Peterson
Original Investigations

DOI: 10.1007/BF00441651

Cite this article as:
Robinson, B.H., Taylor, J., Francois, B. et al. Eur J Pediatr (1983) 140: 98. doi:10.1007/BF00441651

Abstract

Two patients, one dying at 25 days and one at 20 months had ‘chronic’ lactic acidaemia with a high lactate to pyruvate ratio. Both showed EEG abnormalities and seizure activity and both died of respiratory failure. Investigation of cultured skin fibroblasts from these patients revealed normal pyruyate dehydrogenase and pyruvate carboxylase activities but the cells showed a decreased ability to oxidise pyruvate which was returned to normal on the addition of methylene blue. Subsequent investigations revealed that the mitochondria from the patients' cells could oxidise pyruvate normally but that the cells had an abnormal NAD to NADH ratio under standard conditions of incubation. It was concluded that both children had a redox disequilibrium in the cytoplasmic compartment due to a problem in transporting reducing equivalents from the cytoplasmic to the mitochondrial compartments.

Key words

Lacticacidosis Neurological deterioration Redox disequilibrium 

Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • B. H. Robinson
    • 1
    • 5
  • Jennifer Taylor
    • 1
    • 5
  • B. Francois
    • 3
  • A. L. Beaudet
    • 4
    • 2
  • D. F. Peterson
    • 4
    • 2
  1. 1.Departments of Paediatrics and BiochemistryUniversity of TorontoTorontoCanada
  2. 2.Department of Research InstituteThe Hospital for Sick ChildrenTorontoCanada
  3. 3.Centre de Neurologie PediatriqueUniversite Catholique de LouvainBrusselsBelgium
  4. 4.Department of PaediatricsBaylor College of MedicineHoustonUSA
  5. 5.Texas Children's HospitalHoustonUSA

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