Progressive generalized brain atrophy and infantile spasms associated with cytochrome c oxidase deficiency

J Inherit Metab Dis. 1996;19(2):153-6. doi: 10.1007/BF01799417.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acidosis / etiology
  • Atrophy
  • Brain / pathology*
  • Cytochrome-c Oxidase Deficiency*
  • Humans
  • Infant, Newborn
  • Lactates / blood
  • Lactic Acid
  • Magnetic Resonance Imaging
  • Male
  • Pyruvates / blood
  • Pyruvic Acid
  • Spasms, Infantile / etiology*

Substances

  • Lactates
  • Pyruvates
  • Lactic Acid
  • Pyruvic Acid