Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests

J Pediatr. 1994 Aug;125(2):249-51. doi: 10.1016/s0022-3476(94)70205-5.

Abstract

Recurrent episodes of bizarre behavior were the only clinical symptoms that finally led to the diagnosis of ornithine transcarbamylase deficiency in an 8-year-old boy. The suspected diagnosis could not be confirmed with the use of current challenge tests. The response to a high-protein diet for 24 hours appeared to be a helpful diagnostic aid.

Publication types

  • Case Reports

MeSH terms

  • Allopurinol
  • Amino Acid Metabolism, Inborn Errors / complications
  • Amino Acid Metabolism, Inborn Errors / diagnosis*
  • Child Behavior Disorders / etiology*
  • Child, Preschool
  • Diagnostic Errors
  • Dietary Proteins*
  • Heterozygote
  • Humans
  • Male
  • Ornithine Carbamoyltransferase Deficiency Disease*

Substances

  • Dietary Proteins
  • Allopurinol