Blood. 1977 Feb;49(2):247-51.

G-6-PD Long Prairie: a new glucose-6-phosphate dehydrogenase mutant exhibiting normal sensitivity to inhibition by NADPH and accompanied by nonspherocytic hemolytic anemia.

Abstract

The enzymatic properties of a new glucose-6-phosphate dehydrogenase (G-6-PD) variant (G-6-PD Long Prairie) were studied in a white patient with chronic nonspherocytic hemolysis. The red cells were found to have 2.3%-7.7% normal enzymatic activity. The mutant enzyme exhibited marked heat instability, an increased pH optimum, a moderately decreased Km for G-6-P, and increased utilization of 2-deoxyglucose-6-phosphate and deamino NADP. The Km for NADP and Ki for NADPH were both normal. G-6-PD Long Prairie is an interesting new G-6-PD variant that demonstrates that chronic hemolysis can be associated with modestly decreased G-6-PD activity despite normal sensitivity to inhibition by NADPH. Although increased sensitivity to inhibition by NADPH has been postulated to decrease intracellular enzyme activity, resulting in enhanced susceptibility to hemolysis in certain G-6-PD variants with only moderately decreased enzymatic activity, an alternative mechanism of hemolysis, possibly enzyme thermolability, exists in G-6-PD Long Prairie.

PMID:: 12846; [PubMed - indexed for MEDLINE]

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G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia. [Hum Genet. 1982]
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Review Human erythrocyte glucose 6-phosphate dehydrogenase: structure and function in normal and mutant subjects.
Luzzatto L, Testa U. Curr Top Hematol. 1978; 1:1-70.
Review Clinical manifestations of variant G-6-PD enzymes. [Ann Clin Lab Sci. 1971]
Review Clinical manifestations of variant G-6-PD enzymes.
McCurdy PR. Ann Clin Lab Sci. 1971 Sep-Oct; 1(2):184-92.

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Cited by 1 PubMed Central article

Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency. [Am J Hum Genet. 1996]
Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.
Filosa S, Giacometti N, Wangwei C, De Mattia D, Pagnini D, Alfinito F, Schettini F, Luzzatto L, Martini G. Am J Hum Genet. 1996 Oct; 59(4):887-95.

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