Multiple enzyme defects in mitochondria of a case with congenital lactic acidosis and hyperammonaemia

J Inherit Metab Dis. 1992;15(5):809-14. doi: 10.1007/BF01800026.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adenosine Triphosphate / metabolism
  • Electron Transport / physiology
  • Female
  • Fibroblasts / enzymology
  • Fibroblasts / metabolism
  • Humans
  • Immunoblotting
  • Infant, Newborn
  • Intracellular Membranes / enzymology
  • Intracellular Membranes / ultrastructure
  • MELAS Syndrome / enzymology*
  • MELAS Syndrome / genetics
  • Mitochondria / enzymology*
  • Mitochondria / ultrastructure
  • Muscles / enzymology
  • Oxygen Consumption / physiology
  • Pyruvates / metabolism
  • Skin / enzymology

Substances

  • Pyruvates
  • Adenosine Triphosphate