Glucose phosphate isomerase deficiency

B9. Baronciani, L., Zanella, A., Bianchi, P Zappa, M Alfinito, E, Iolascon, A., Tannoia, N., Beutler, E., and Sirchia, G., Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia. Blood 88,2306-2310 (1996). 

FI 3. Fujii, H., Kanno, H Hirono, A., and Miwa, S., Hematologically important mutations Molecular abnormalities of glucose phosphate isomerase deficiency. Blood Cells Mol. Dis. 22,96-97 (1996). 

D-2) Glucose phosphate isomerase deficiency. Associated with a hemolytic anemia. 

Hutton 11, Chilcote RR. Glucose phosphate isomerase deficiency with hereditary nonspherocytic hemolytic anemia. 1 Pediatr 1974 85 494-7. 

Ravindranath Y, Paglia DE, Warrier I, Valentine W, Nakatani M, Brockway RA. Glucose phosphate isomerase deficiency as a cause of hydrops fetalis. N Engl J Med 1987 316 258-61. 

XI. Xu, W. M., and Beutler, E The characterization of gene mutations for human glucose phosphate isomerase (GPI) deficiency associated with chronic hemolytic anemia. J. Clin. Invest. 94, 2326-2329 (1994). 

D-Glucose PGI1 mutant is deficient in D-glucose phosphate isomerase 344... 

Deficiency of glucose phosphate isomerase (GPI) has been associated with chronic hemolytic disease in a few dozen reported cases and may also cause hemolytic disease of the newborn. Although the third most frequently reported enzymopathy causing hemolytic disease, it has been quite rare in our experience. 

Combined glucose phosphate isomerase and glucose-6-phosphate dehydrogenase deficiency of eiythroc5d es. 

Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B. Amoxicillin-induced hemolytic anemia in a child with glucose 6-phosphate isomerase deficiency. Ann Pharmacother 2010 44(7-8) 1327-9. 

Approximately 90 percent of all cases of known RBC enzyme deficiencies involve either altered protein or decreased protein levels of pyruvate kinase whereas 4 percent are variants of glucose 6-phosphate isomerase, which converts glucose 6-phosphate to fructose 6-phosphate. Most of these enzyme deficiencies are inherited in an autosomal recessive pattern. 

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