Pearson syndrome: altered tricarboxylic acid and urea-cycle metabolites, adrenal insufficiency and corneal opacities

J Inherit Metab Dis. 1993;16(3):537-40. doi: 10.1007/BF00711675.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Acids / blood
  • Acids / urine
  • Adrenal Insufficiency / genetics
  • Adrenal Insufficiency / metabolism*
  • Amino Acids / blood
  • Amino Acids / urine
  • Blotting, Southern
  • Citric Acid Cycle / physiology
  • Corneal Opacity / genetics
  • Corneal Opacity / metabolism*
  • DNA, Mitochondrial / analysis
  • Energy Metabolism / physiology
  • Humans
  • Infant
  • Male
  • Metabolism, Inborn Errors / genetics
  • Metabolism, Inborn Errors / metabolism*
  • Syndrome
  • Urea / metabolism

Substances

  • Acids
  • Amino Acids
  • DNA, Mitochondrial
  • Urea