G6PD Vientiane: a new glucose-6-phosphate dehydrogenase variant with increased stability

Hum Genet. 1978 Jul 12;43(1):85-9. doi: 10.1007/BF00396482.

Abstract

A new G6PD variant, called G6PD Vientiane, has been discovered in a patient from Laos. The characteristics of this variant are: mild enzyme deficiency (about 50% of the normal activity) in the granulocytes and the red cells, with normal G6PD-related antigen concentration; increased stability; normal Km glucose 6-phosphate and NADP+; increased inhibition constant by NADPH; decreased inhibition by ATP; slightly increased utilization of the substrate analogue; abnormal pH curve, with maximum activity at pH 9.5; slightly reduced starch gel electrophoretic migration. The implications of the molecular stability of a deficient mutant variant are discussed.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Electrophoresis, Starch Gel
  • France
  • Genetic Variation*
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase / metabolism
  • Humans
  • Hydrogen-Ion Concentration
  • Laos / ethnology
  • Male
  • NAD / metabolism
  • NADP / metabolism

Substances

  • NAD
  • NADP
  • Glucosephosphate Dehydrogenase