Gd(-) Carapicuiba, a rare glucose-6-phosphate dehydrogenase variant associated with moderate enzyme deficiency and chronic hemolysis.
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.
Barretto
O C
OC
Faculdade de Medicina, Universidade de São Paulo, Instituto dos Laboratórios de Investigação Médica, Brasil.
Nonoyama
K
K
D000328:Adult; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications / Q000201:enzymology*; D004912:Erythrocytes / Q000201:enzymology*; D014644:Genetic Variation; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000201:enzymology*; D006461:Hemolysis; D006801:Humans; D008297:Male; D010375:Pedigree
D005954:Glucosephosphate Dehydrogenase