RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164070908
T1 Glucose Phosphate Isomerase Deficiency
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164070908
RD 2024/04/16
AB Glucose  phosphate  isomerase  deficiency  is  the  third  most  common  red  blood  cell  glycolytic  enzymopathy  after  glucose-6-phosphate  isomerase  deficiency  and  pyruvate  kinase  deficiency.  It  is  an  autosomal  recessive  disease  caused  by  a  deficiency  in  the  enzyme  glucose  phosphate  isomerase  and  clinically  characterized  by  nonspherotic  hemolytic  anemia  and  spontaneous  hemolytic  crises.  Approximately  50  different  cases  have  been  described  to  date.  Associated  with  mild  to  severe  chronic  hemolytic  anemia  in  homozygotes  or  compound  heterozygotes.