G6PD Avenches and G6PD Moosburg: biochemical and erythrocyte membrane characterization

Blut. 1989 Jan;58(1):11-4. doi: 10.1007/BF00320229.

Abstract

Two new G6PD variants with severe enzyme deficiency in Switzerland (G6PD Avenches, G6PD I) and in Germany (G6PD Moosburg, G6PD II) are described. One patient had suffered from severe postpartal hyperbilirubinemia, the other one presented with chronic hemolysis and remittent hyperbilirubinemia. Both variants showed diminished electrophoretic mobility, both variants were heat labile. The Michaelis-Menten constants KM for glucose-6-phosphate and for NADP+ were normal. 2-Desoxy-glucose-6-phosphate was utilized by G6PD I in a higher and by G6PD II at a lower rate than by the normal enzyme. Desamino-NADP+ and galactose-6-phosphate were utilized by both variants at a normal rate. The electrophoretic separation of membrane proteins of G6PD II showed both in the presence and in the absence of 6-mercaptoethanol no difference concerning the formation of membrane protein aggregates between patient and normal control.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Electrophoresis, Starch Gel
  • Erythrocyte Membrane / physiology*
  • Genetic Variation
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase / isolation & purification
  • Glucosephosphate Dehydrogenase Deficiency / blood*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Glucosephosphate Dehydrogenase Deficiency / pathology
  • Hot Temperature
  • Humans
  • Male

Substances

  • Glucosephosphate Dehydrogenase