Article
Gd(-) Carapicuiba, a rare glucose-6-phosphate dehydrogenase variant associated with moderate enzyme deficiency and chronic hemolysis.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jan 1991
Barretto O C, Nonoyama K
Abstract excerpt
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...
Topics
- Adult
- Anemia, Hemolytic, Congenital Nonspherocytic
- Erythrocytes
- Genetic Variation
- Glucosephosphate Dehydrogenase
- Glucosephosphate Dehydrogenase Deficiency
- Hemolysis
- Humans
- Male
- Pedigree
