A new peroxisomal disorder with fetal and neonatal adrenal insufficiency

Arch Dis Child Fetal Neonatal Ed. 1994 Jul;71(1):F55-6. doi: 10.1136/fn.71.1.f55.

Abstract

A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Insufficiency / pathology*
  • Adrenoleukodystrophy / metabolism
  • Adrenoleukodystrophy / pathology*
  • Fatty Acids / metabolism
  • Humans
  • Infant, Newborn
  • Liver / metabolism
  • Liver / ultrastructure
  • Male
  • Microbodies / metabolism
  • Microbodies / pathology*

Substances

  • Fatty Acids