Heterozygous pyruvate kinase deficiency and severe hemolytic anemia in a pregnant woman with concomitant, glucose-6-phosphate dehydrogenase deficiency

1991 ◽  
Vol 62 (5) ◽  
pp. 190-193 ◽  
Author(s):  
J. -Ll. Vives Corrons ◽  
A. Miguel García ◽  
A. Miguel Sosa ◽  
A. Pujades ◽  
D. Colomer ◽  
...  
Keyword(s):  
Pregnant Woman ◽  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Kinase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase

scholarly journals A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency

Blood ◽  
1966 ◽  
Vol 28 (6) ◽  
pp. 942-942
Author(s):  
ERNEST BEUTLER ◽  
Agnes Halasz
Keyword(s):  
Glutathione Reductase ◽  
Pyruvate Kinase ◽  
Dehydrogenase Deficiency ◽  
Pyruvate Kinase Deficiency ◽  
Reductase Deficiency ◽  
Screening Procedures ◽  
Glutathione Reductase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract BEUTLER, E.: A SERIES OF NEW SCREENING PROCEDURES FOR PYRUVATE KINASE DEFICIENCY, GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY, AND GLUTATHIONE REDUCTASE DEFICIENCY. Blood 28:553-562, 1966. In the October 1966 issue of Blood, on page 557 the concentration for GSSG was erroneously given as .003 M. The line under B. Reaction Mixture should read: GSSG, .033M 0.1 ml.

scholarly journals A Series of New Screening Procedures for Pyruvate Kinase Deficiency, Glucose-6-Phosphate Dehydrogenase Deficiency, and Glutathione Reductase Deficiency

Blood ◽  
1966 ◽  
Vol 28 (4) ◽  
pp. 553-562 ◽  
Author(s):  
ERNEST BEUTLER ◽  
Agnes Halasz
Keyword(s):  
Glutathione Reductase ◽  
Pyruvate Kinase ◽  
Dehydrogenase Deficiency ◽  
Triosephosphate Isomerase ◽  
General Procedure ◽  
Red Cell ◽  
Pyruvate Kinase Deficiency ◽  
Reductase Deficiency ◽  
Glutathione Reductase Deficiency ◽  
Glucose 6 Phosphate Dehydrogenase

Abstract A new type of screening procedure for the detection of enzymatic defects of the red cell has been described. The blood or red cell sample is added to the reaction mixture. After a suitable period of incubation a drop of the mixture is spotted on filter paper, permitted to dry, and examined for fluorescence under UV light. In this way the oxidation of reduction of pyridine nucleotides is readily evaluated. Reaction mixtures for the detection of glucose-6-phosphate dehydrogenase deficiency, pyruvate kinase deficiency, and glutathione reductase deficiency are described. The same general procedure should be readily adaptable to the detection of other enzymatic deficiencies of red cells, such as phosphogluconate dehydrogenase deficiency or triosephosphate isomerase deficiency.

scholarly journals Impaired erythrocyte phosphoribosylpyrophosphate formation in hemolytic anemia due to pyruvate kinase deficiency

Blood ◽  
1988 ◽  
Vol 72 (2) ◽  
pp. 500-506 ◽  
Author(s):  
CR Zerez ◽  
MD Wong ◽  
NA Lachant ◽  
KR Tanaka
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Adenosine Triphosphate ◽  
Pyridine Nucleotide ◽  
Pentose Phosphate ◽  
Atp Depletion ◽  
Pyridine Nucleotides ◽  
Pyruvate Kinase Deficiency ◽  
Nucleotide Content ◽  
Pentose Phosphate Shunt

Abstract RBCs from patients with hemolytic anemia due to pyruvate kinase (PK) deficiency are characterized by a decreased total adenine and pyridine nucleotide content. Because phosphoribosylpyrophosphate (PRPP) is a precursor of both adenine and pyridine nucleotides, we investigated the ability of intact PK-deficient RBCs to accumulate PRPP. The rate of PRPP formation in normal RBCs (n = 11) was 2.89 +/- 0.80 nmol/min.mL RBCs. In contrast, the rate of PRPP formation in PK-deficient RBCs (n = 4) was markedly impaired at 1.03 +/- 0.39 nmol/min.mL RBCs. Impaired PRPP formation in these cells was not due to the higher proportion of reticulocytes. To study the mechanism of impaired PRPP formation, PK deficiency was simulated by incubating normal RBCs with fluoride. In normal RBCs, fluoride inhibited PRPP formation, caused adenosine triphosphate (ATP) depletion, prevented 2,3-diphosphoglycerate (DPG) depletion, and inhibited pentose phosphate shunt (PPS) activity. These results together with other data suggest that impaired PRPP formation is mediated by changes in ATP and DPG concentration, which lead to decreased PPS and perhaps decreased hexokinase and PRPP synthetase activities. Impaired PRPP formation may be a mechanism for the decreased adenine and pyridine nucleotide content in PK-deficient RBCs.

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

Blood ◽  
2000 ◽  
Vol 95 (11) ◽  
pp. 3585-3588 ◽  
Author(s):  
Ernest Beutler ◽  
Terri Gelbart
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Relative Frequency ◽  
Gene Frequency ◽  
Red Cell ◽  
White Population ◽  
Pyruvate Kinase Deficiency ◽  
Oligonucleotide Hybridization ◽  
Allele Specific ◽  
White Patients

Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. The prevalence of this deficiency is unknown, though some estimates have been made based on the frequency of low red cell PK activity in the population. An additional 20 patients with hereditary nonspherocytic hemolytic anemia caused by PK deficiency have been genotyped. One previously unreported mutation 1153C→T (R385W) was encountered. The relative frequency of PK mutations in patients with hemolytic anemia caused by PK deficiency was calculated from the 18 white patients reported here and from 102 patients previously reported in the literature. DNA samples from 3785 subjects from different ethnic groups have been screened for the 4 more frequently encountered mutations—c.1456 C→T(1456T), c.1468 C→T(1468T), c.1484 C→T(1484T), and c.1529 G6A (1529A)—by allele-specific oligonucleotide hybridization. Among white patients the frequency of the 1456T mutation was 3.50 × 10−3; that of the 1529A mutation was 2.03 × 10−3. Among African Americans the frequency of the 1456T mutation was 3.90 × 10−3 The only mutation found in the limited number of Asians tested was 1468T at a frequency of 7.94 × 10−3. Based on the gene frequency of the 1529A mutation in the white population and on its relative abundance in patients with hemolytic anemia caused by PK deficiency, the prevalence of PK deficiency is estimated at 51 cases per million white population. This number would be increased by inbreeding and decreased by failure of patients with PK deficiency to survive.

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