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
Artigo
em Inglês
| 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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Índice:
LILACS (Américas)
Assunto principal:
Eritrócitos
/
Glucosefosfato Desidrogenase
/
Deficiência de Glucosefosfato Desidrogenase
/
Anemia Hemolítica Congênita não Esferocítica
Tipo de estudo:
Fatores de risco
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
1991
Tipo de documento:
Artigo
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