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...

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Bibliographic Details
Published inEuropean journal of haematology Vol. 52; no. 5; p. 263
Main Authors Alfinito, F, Ferraro, F, Rocco, S, De Vendittis, E, Piccirillo, G, Sementa, A, Colombo, M B, Zanella, A, Rotoli, B
Format Journal Article
LanguageEnglish
Published England 01.05.1994
Subjects
Adult
Anemia, Hemolytic, Congenital - enzymology
Anemia, Hemolytic, Congenital Nonspherocytic
Erythrocytes - enzymology
Glucose-6-Phosphate Isomerase - blood
Glucose-6-Phosphate Isomerase - genetics
Humans
Male
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Summary: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".
ISSN:0902-4441
DOI:10.1111/j.1600-0609.1994.tb00094.x