Normal activities of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Leigh's syndrome

Tohoku J Exp Med. 1983 Jan;139(1):67-72. doi: 10.1620/tjem.139.67.

Abstract

A case of Leigh's syndrome (subacute necrotizing encephalomyelopathy, SNE), proven by autopsy, was reported. The persistent elevation of pyruvate and lactate in blood and hyperalanemia suggested an impairment of pyruvate oxidation, but the enzyme activities of pyruvate dehydrogenase (PDH) and pyruvate carboxylase (PC) in liver tissues of the patient revealed normal. It is postulated that Leigh's syndrome and both enzyme deficiencies are distinct entities.

Publication types

  • Case Reports

MeSH terms

  • Brain / pathology
  • Brain Stem
  • Central Nervous System Diseases / pathology
  • Encephalomalacia / enzymology*
  • Humans
  • Infant
  • Intellectual Disability / enzymology
  • Lactates / blood
  • Lactic Acid
  • Liver / enzymology*
  • Male
  • Psychomotor Disorders / enzymology
  • Pyruvate Carboxylase / metabolism*
  • Pyruvate Dehydrogenase Complex / metabolism*
  • Pyruvates / blood
  • Pyruvic Acid
  • Syndrome

Substances

  • Lactates
  • Pyruvate Dehydrogenase Complex
  • Pyruvates
  • Lactic Acid
  • Pyruvic Acid
  • Pyruvate Carboxylase