Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma

Ann Hematol. 2011 Jul;90(7):857-9. doi: 10.1007/s00277-010-1106-y.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Fatal Outcome
  • Hemizygote
  • Hodgkin Disease / drug therapy*
  • Hodgkin Disease / radiotherapy*
  • Humans
  • Hyperammonemia / diagnosis
  • Hyperammonemia / genetics*
  • Male
  • Mutation / genetics*
  • Ornithine Carbamoyltransferase Deficiency Disease / diagnosis
  • Ornithine Carbamoyltransferase Deficiency Disease / genetics*
  • Treatment Outcome
  • Young Adult