Journal of Inherited Metabolic Disease

, Volume 2, Issue 1, pp 15–18 | Cite as

Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase

  • J. P. G. M. Van Biervliet
  • M. Duran
  • S. K. Wadman
  • J. F. Koster
  • A. van Rossum


In a patient with the clinical symptoms of Leigh's disease a partial deficiency of hepatic pyruvate carboxylase and pyruvate decarboxylase was found at necropsy. Cerebral pyruvate decarboxylase activity was also diminished. All enzyme activities were measured in total homogenates. The finding of typical necrotic lesions in the brain stem was consistent with the clinical diagnosis. During life moderate lactic acidaemia and no hypoglycaemia were observed, but an abnormal organic acid excretion pattern was present. The contribution of the enzyme defects to the aetiology of the disease is discussed.


Pyruvate Organic Acid Clinical Symptom Clinical Diagnosis Brain Stem 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© MTP Press Limited 1979

Authors and Affiliations

  • J. P. G. M. Van Biervliet
    • 1
  • M. Duran
    • 1
  • S. K. Wadman
    • 1
  • J. F. Koster
    • 2
  • A. van Rossum
    • 3
  1. 1.‘Het Wilhelmina Kinderziekenhuis’University Children's HospitalUtrechtThe Netherlands
  2. 2.Department of BiochemistryErasmus UniversityRotterdamThe Netherlands
  3. 3.Department of Neurology (Laboratory of Neuropathology)University HospitalUtrechtThe Netherlands

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