Gd(-) Carapicuiba, a rare glucose-6 phosphate dehydrogenase variant associated with moderate enzyme deficiency and chronic hemolysis
Rev. bras. pesqui. méd. biol
; Braz. j. med. biol. res;24(2): 133-9, 1991. tab
Article
in En
| LILACS
| ID: lil-99446
Responsible library:
BR26.1
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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Index:
LILACS
Main subject:
Erythrocytes
/
Glucosephosphate Dehydrogenase
/
Glucosephosphate Dehydrogenase Deficiency
/
Anemia, Hemolytic, Congenital Nonspherocytic
Type of study:
Risk_factors_studies
Limits:
Adult
/
Humans
/
Male
Language:
En
Journal:
Braz. j. med. biol. res
/
Rev. bras. pesqui. méd. biol
Journal subject:
BIOLOGIA
/
MEDICINA
Year:
1991
Type:
Article