Glucose phosphate isomerase (GPI) "Morcone": a new variant from Italy.
Here we report the 4th Italian case of glucose phosphate isomerase (GPI) deficiency. The propositus is a young man suffering from chronic haemolytic anaemia since birth with occasional transfusion requirement. Biochemical characterization of the defective enzyme revealed increased affinity for F-6-P, decreased affinity for G-6-P and marked thermoinstability. Electrophoretic mobility appeared normal. GPI from both parents showed similar but less pronounced biochemical alterations. The variant described here seems to be different from those previously reported. Thus, we propose the provisional name of GPI "Morcone".
Alfinito
F
F
Division of Haematology, Federico II University of Naples Medical School, Italy.
Ferraro
F
F
Rocco
S
S
De Vendittis
E
E
Piccirillo
G
G
Sementa
A
A
Colombo
M B
MB
Zanella
A
A
Rotoli
B
B
D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D004912:Erythrocytes / Q000201:enzymology; D005956:Glucose-6-Phosphate Isomerase / Q000097:blood / Q000235:genetics; D006801:Humans; D008297:Male
D005956:Glucose-6-Phosphate Isomerase