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

Abstract

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.

• Authors: J P Van Biervliet, M Duran, S K Wadman, J F Koster, A van Rossum
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 2 Issue 1 Pg. 15-8 ( 1980) ISSN: 0141-8955 [Print] United States
• PMID: 6796755 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carboxy-Lyases
• Pyruvate Decarboxylase

Topics

• Brain (enzymology, pathology)
• Carboxy-Lyases (deficiency)
• Central Nervous System Diseases (diagnosis, enzymology)
• Female
• Humans
• Infant
• Liver (enzymology)
• Metabolism, Inborn Errors (diagnosis, pathology)
• Pyruvate Carboxylase Deficiency Disease
• Pyruvate Decarboxylase (deficiency)