Glucose phosphate isomerase (GPI) 'Morcone': A new variant from Italy

F. Alfinito, F. Ferraro, S. Rocco, E. De Vendittis, G. Piccirillo, A. Sementa, M. B. Colombo, A. Zanella, B. Rotoli

Research output: Contribution to journalArticle

Abstract

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'.

Original languageEnglish
Pages (from-to)263-266
Number of pages4
JournalEuropean Journal of Haematology
Volume52
Issue number5
Publication statusPublished - 1994

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Keywords

  • congenital non-spherocytic haemolytic anaemia
  • enzyme deficiency
  • glucosephosphateisomerase

ASJC Scopus subject areas

  • Hematology

Cite this

Alfinito, F., Ferraro, F., Rocco, S., De Vendittis, E., Piccirillo, G., Sementa, A., Colombo, M. B., Zanella, A., & Rotoli, B. (1994). Glucose phosphate isomerase (GPI) 'Morcone': A new variant from Italy. European Journal of Haematology, 52(5), 263-266.