Gd(-) Carapicuiba, a rare glucose-6-phosphate dehydrogenase variant associated with moderate enzyme deficiency and chronic hemolysis

Braz J Med Biol Res. 1991;24(2):133-9.

Abstract

1. A 27 year old Brazilian male of both Portuguese and Spanish origin presenting nonspherocytic chronic hemolytic anemia was found to have a rare glucose-6-phosphate dehydrogenase variant herein named Gd(-) Carapicuiba. 2. The red blood cell enzyme variant is characterized by a moderate enzyme deficiency (47%), high Km for its substrates G6P and NADP, decreased activity against deamino-NADP, increased Ki for NADPH and decreased heat stability. 3. The clinical signs of the patient are probably related to these properties of the enzyme variant.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital Nonspherocytic / complications
  • Anemia, Hemolytic, Congenital Nonspherocytic / enzymology*
  • Erythrocytes / enzymology*
  • Genetic Variation
  • Glucosephosphate Dehydrogenase / blood
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Glucosephosphate Dehydrogenase Deficiency / enzymology*
  • Hemolysis
  • Humans
  • Male
  • Pedigree

Substances

  • Glucosephosphate Dehydrogenase