Gd(-) Carapicuiba, a rare glucose-6 phosphate dehydrogenase variant associated with moderate enzyme deficiency and chronic hemolysis
Braz. j. med. biol. res
;
24(2): 133-9, 1991. tab
Article
Dans Anglais
| 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
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Indice:
LILAS (Amériques)
Sujet Principal:
Érythrocytes
/
Glucose 6-phosphate dehydrogenase
/
Déficit en glucose-6-phosphate-déshydrogénase
/
Anémie hémolytique congénitale non sphérocytaire
Type d'étude:
Facteurs de risque
Limites du sujet:
Adulte
/
Humains
/
Mâle
langue:
Anglais
Texte intégral:
Braz. j. med. biol. res
Thème du journal:
Biologie
/
Médicament
Année:
1991
Type:
Article
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