[Metabolic study in a child with Leigh's syndrome and deficient activity in complex I of the respiratory chain]

Cesk Pediatr. 1993 Oct;48(10):586-9.
[Article in Czech]

Abstract

Leigh's syndrome--subacute necrotizing encephalomyopathy--is a serious disease of child age manifested by severe psychomotor retardation, a varied neurological symptomatology, a typically symmetrical neuropathological affection of the central nervous system in the area of the basal ganglia and a metabolic disorder affecting the energy system of cells. The authors describe the clinical course of the disease and the results of metabolic and neuropathological investigations in an infant with Leigh's syndrome and severe lactate acidosis based on deficiency of complex I activity of the respiratory chain.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Female
  • Humans
  • Infant
  • Leigh Disease / metabolism*
  • Multienzyme Complexes / metabolism*
  • NADH Dehydrogenase / metabolism*
  • NADH, NADPH Oxidoreductases / metabolism*

Substances

  • Multienzyme Complexes
  • NADH oxidase
  • NADH, NADPH Oxidoreductases
  • NADH Dehydrogenase