Glucosephosphate-Isomerase (GPI) Deficiency: GPI Elyria
- 1 June 1974
- journal article
- Published by American College of Physicians in Annals of Internal Medicine
- Vol. 80 (6) , 730-732
- https://doi.org/10.7326/0003-4819-80-6-730
Abstract
The erythrocytes of a 13-year-old girl with chronic nonspherocytic hemolytic anemia were found to be deficient in glucosephosphate isomerase (GPI). The ratio of erythrocyte glucose-6-phosphate to fructose-6-phosphate the equilibrium catalyzed by GPI was twice that of normal. Splenectomy produced clinical improvement and lengthening of the [51Cr]erythrocyte survival. Since her parents were related, the child was evidently homozygous for a mutant allele. The mutant enzyme, which is designated "Elyria," was found to be electrophoretically slow and thermolabile. An incidental finding was that the patient's mother also carried a gene that coded for an electrophoretically abnormal GPI with normal activity. This electrophoretic variant has been designated "GPIOhio."Keywords
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