1.
Braz. j. med. biol. res
;
24(2): 133-9, 1991. tab
Article
in English
| LILACS
| ID: lil-99446
ABSTRACT
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. 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. The clinical signs of the patient are probably related to these properties of the enzyme variant
Subject(s)
Adult , Humans , Male , Anemia, Hemolytic, Congenital Nonspherocytic/enzymology , Erythrocytes/enzymology , Glucosephosphate Dehydrogenase Deficiency/enzymology , Glucosephosphate Dehydrogenase/genetics , Anemia, Hemolytic, Congenital Nonspherocytic/complications , Genetic Variation , Glucosephosphate Dehydrogenase Deficiency/complications , Glucosephosphate Dehydrogenase/blood , Hemolysis , Pedigree
2.
Article
in English
| IMSEAR
| ID: sea-42502