Pyruvate kinase ?G�ttingen1,2?: Congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity

1982 ◽  
Vol 60 (4) ◽  
pp. 381-386 ◽  
Author(s):  
W. Schr�ter ◽  
M. Lakomek ◽  
M. Scharnetzky ◽  
W. Tillmann ◽  
H. Winkler
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Double Heterozygosity ◽  
Congenital Hemolytic Anemia

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-linede novomutation

2015 ◽  
Vol 90 (12) ◽  
pp. E217-E219 ◽  
Author(s):  
María Del Mar Mañú-Pereira ◽  
Eva Gonzalez-Roca ◽  
Wouter W. van Solinge ◽  
Esther Llaudet-Planas ◽  
Julián Sevilla ◽  
...  
Keyword(s):  
Pyruvate Kinase ◽  
Hemolytic Anemia ◽  
Pyruvate Kinase Deficiency ◽  
Paternal Transmission ◽  
Heterozygous Patient ◽  
Congenital Hemolytic Anemia

A Case of Congenital Hemolytic Anemia of Unknown Cause Combined with Gilbert's Syndrome

2008 ◽  
Vol 43 (1) ◽  
pp. 58 ◽  
Author(s):  
Ji Whan Lim ◽  
Joon Hyouk Choi ◽  
Yang Hoon Nam ◽  
In Seok Seo ◽  
Seong Min Yoon ◽  
...  
Keyword(s):  
Hemolytic Anemia ◽  
Gilbert’S Syndrome ◽  
Gilbert's Syndrome ◽  
Congenital Hemolytic Anemia

Congenital Hemolytic Anemia with High Sodium, Low Potassium Red Cells

1968 ◽  
Vol 278 (11) ◽  
pp. 573-581 ◽  
Author(s):  
Harold S. Zarkowsky ◽  
Frank A. Oski ◽  
Ramadan Sha'afi ◽  
Stephen B. Shohet ◽  
David G. Nathan
Keyword(s):  
Hemolytic Anemia ◽  
Red Cells ◽  
High Sodium ◽  
Low Potassium ◽  
Congenital Hemolytic Anemia

Clinical and hematologic outcomes after splenectomy for congenital hemolytic anemia

2021 ◽  
Vol 6 (1) ◽  
pp. 41
Author(s):  
RaniaR El Nahal ◽  
MostafaM Embaby ◽  
MotazA El Tayeb ◽  
MohammedH Ghazaly
Keyword(s):  
Hemolytic Anemia ◽  
Congenital Hemolytic Anemia

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.

scholarly journals Severe congenital hemolytic anemia caused by a novel compound heterozygous PKLR gene mutation in a Chinese boy

2019 ◽  
Vol 132 (1) ◽  
pp. 92-95 ◽  
Author(s):  
Peng-Peng Liu ◽  
Hu-Qing Ding ◽  
Shen-Zhen Huang ◽  
Sheng-Yong Yang ◽  
Ting Liu
Keyword(s):  
Gene Mutation ◽  
Hemolytic Anemia ◽  
Compound Heterozygous ◽  
Congenital Hemolytic Anemia
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