A new glucose 6-phosphate dehydrogenase variant (GDTrinacria) in two unrelated families of Sicilian ancestry

Ital J Biochem. 1977 Jan-Feb;26(1):44-50.

Abstract

A new G6PD variant in two unrelated families of Sicilian extraction is described. It is characterized by an enzyme activity amounting to 20% of normal, by a slow electrophoretic mobility, decreased Km values for both TPN and G6P, increased utilization of substrates analogues, thermolability and biphasic pH curve. It has been named G6PD Trinacria.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Genetic Variation*
  • Glucosephosphate Dehydrogenase / metabolism*
  • Glucosephosphates / metabolism
  • Humans
  • Hydrogen-Ion Concentration
  • Italy
  • Kinetics
  • Male
  • NADP / metabolism

Substances

  • Glucosephosphates
  • NADP
  • Glucosephosphate Dehydrogenase