TY - JOUR
T1 - The first stable variant of erythrocyte glucose-phosphate isomerase associated with severe hemolytic anemia
AU - Zanella, A.
AU - Izzo, C.
AU - Rebulla, P.
AU - Perroni, L.
AU - Mariani, M.
AU - Canestri, G.
AU - Sansone, G.
AU - Sirchia, G.
PY - 1980
Y1 - 1980
N2 - A new variant of glucose phosphate isomerase (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described. The defective enzyme showed increased affinity for fructose-6-phosphate (F-6-P), decreased affinity for glucose-6-phosphate (G-6-P), altered electrophoretic and isoelectrofocusing patterns, and shift to the left of the precipitin curve. The enzyme was stable under all the conditions tested (heat, urea, guanidine-HCl, and storage). Optimum pH, Ki for 6-phosphogluconic acid (6-PGA) and for erythrose-4-phosphate (E-4-P), molecular weight, GPI-related antigen concentration, immunodiffusion pattern, and immunoinactivation were in the normal range. This is the first example of the association of a stable mutant GPI with severe hemolytic anemia. Enzyme instability has been present in all previously reported cases.
AB - A new variant of glucose phosphate isomerase (GPI) associated with hemolytic anemia, mental retardation, and muscular hypotonia is described. The defective enzyme showed increased affinity for fructose-6-phosphate (F-6-P), decreased affinity for glucose-6-phosphate (G-6-P), altered electrophoretic and isoelectrofocusing patterns, and shift to the left of the precipitin curve. The enzyme was stable under all the conditions tested (heat, urea, guanidine-HCl, and storage). Optimum pH, Ki for 6-phosphogluconic acid (6-PGA) and for erythrose-4-phosphate (E-4-P), molecular weight, GPI-related antigen concentration, immunodiffusion pattern, and immunoinactivation were in the normal range. This is the first example of the association of a stable mutant GPI with severe hemolytic anemia. Enzyme instability has been present in all previously reported cases.
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U2 - 10.1002/ajh.2830090102
DO - 10.1002/ajh.2830090102
M3 - Article
C2 - 7435496
AN - SCOPUS:0018926485
VL - 9
SP - 1
EP - 11
JO - American Journal of Hematology
JF - American Journal of Hematology
SN - 0361-8609
IS - 1
ER -