Infanto-juvenile encephaloneuropathy and pigmentary retinopathy in a girl associated with congenital adrenal insufficiency and altered plasma medium-chain fatty acid levels

J Inherit Metab Dis. 1988:11 Suppl 2:178-82. doi: 10.1007/BF01804229.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adrenal Insufficiency / complications
  • Adrenal Insufficiency / congenital*
  • Adrenal Insufficiency / metabolism
  • Brain Diseases, Metabolic / complications*
  • Brain Diseases, Metabolic / metabolism
  • Child
  • Fatty Acids / blood*
  • Female
  • Humans
  • Lipid Metabolism, Inborn Errors / complications
  • Lipid Metabolism, Inborn Errors / metabolism
  • Peripheral Nervous System Diseases / complications*
  • Peripheral Nervous System Diseases / metabolism
  • Retinal Diseases / complications*
  • Retinal Diseases / metabolism

Substances

  • Fatty Acids