Ornithine transcarbamylase (OTC) deficiency based on a hemizygous p.R277W mutation causing life-threatening hyperammonemic crisis during treatment for Hodgkin's lymphoma.
Abteilung Hämatologie und Onkologie, Klinik für Innere Medizin II, Universitätsklinikum Jena, 07747, Jena, Germany.
Ellen
E
Ritter
Ralf A
RA
Husain
Katrin
K
Hinderhofer
Tino
T
Prell
Hans-Jörg
HJ
Fricke
Sebastian
S
Scholl
Andreas
A
Hochhaus
Paul
P
La Rosée
D017809:Fatal Outcome; D057898:Hemizygote; D006689:Hodgkin Disease / Q000188:drug therapy* / Q000532:radiotherapy*; D006801:Humans; D022124:Hyperammonemia / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D016896:Treatment Outcome; D055815:Young Adult