Menkes disease: study of the mitochondrial respiratory chain in three cases

Eur J Paediatr Neurol. 1999;3(4):167-70. doi: 10.1016/s1090-3798(99)90050-8.

Abstract

Mitochondrial oxidative metabolism in three patients with typical Menkes disease was studied. In two cases, a general decrease in all of the respiratory chain complex activities (I, II, III and IV) was observed. However, in the most severe case, these activities were entirely normal. Our results emphasize the diversity of the cellular expression of Menkes disease which can, in some cases, be associated with a mitochondrial encephalomyopathy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ceruloplasmin / metabolism
  • Citrate (si)-Synthase / genetics
  • Citrate (si)-Synthase / metabolism
  • Copper / metabolism
  • Copper Radioisotopes
  • Electron Transport / genetics*
  • Electron Transport / physiology*
  • Fibroblasts
  • Humans
  • Infant
  • Male
  • Menkes Kinky Hair Syndrome / enzymology
  • Menkes Kinky Hair Syndrome / genetics*
  • Menkes Kinky Hair Syndrome / metabolism*
  • Mitochondria, Muscle / enzymology
  • Mitochondria, Muscle / genetics*
  • Mitochondria, Muscle / metabolism*
  • NADH Dehydrogenase / genetics
  • NADH Dehydrogenase / metabolism
  • Succinate Cytochrome c Oxidoreductase / genetics
  • Succinate Cytochrome c Oxidoreductase / metabolism

Substances

  • Copper Radioisotopes
  • Copper
  • Succinate Cytochrome c Oxidoreductase
  • Ceruloplasmin
  • NADH Dehydrogenase
  • Citrate (si)-Synthase