Cerebral energy metabolism in isovaleric acidaemia

Arch Dis Child Fetal Neonatal Ed. 1996 May;74(3):F211-3. doi: 10.1136/fn.74.3.f211.

Abstract

A newborn infant with an acute metabolic encephalopathy caused by isovaleric acidaemia had severe impairment of cerebral energy metabolism. This was detected by phosphorus and proton magnetic resonance spectroscopy. After treatment she made excellent clinical recovery, her spectroscopic abnormalities resolved, and she was neurologically normal at the age of 1 year.

Publication types

  • Case Reports

MeSH terms

  • Brain / metabolism*
  • Brain Diseases / etiology
  • Brain Diseases / metabolism*
  • Energy Metabolism*
  • Female
  • Humans
  • Hydrogen
  • Infant
  • Infant, Newborn
  • Isovaleryl-CoA Dehydrogenase
  • Magnetic Resonance Spectroscopy
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / metabolism*
  • Metabolism, Inborn Errors / therapy
  • Oxidoreductases / deficiency*
  • Oxidoreductases Acting on CH-CH Group Donors*
  • Phosphorus Isotopes
  • Treatment Outcome

Substances

  • Phosphorus Isotopes
  • Hydrogen
  • Oxidoreductases
  • Oxidoreductases Acting on CH-CH Group Donors
  • Isovaleryl-CoA Dehydrogenase