Hereditary Hemolytic Anemia Associated with Phosphoglycerate Kinase Deficiency in Erythrocytes and Leukocytes

Valentine, William N.; Hsieh, Hsin-soon; Paglia, Donald E.; Anderson, Helen; Baughan, Marjorie A.; Jaffé, Ernst R.; Garson, O. Margaret

doi:10.1056/nejm196903062801003

Cited by 111 publications

(35 citation statements)

References 24 publications

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“…Further experiments designed to investigate the relationship of PGK to Na+ and K+ pumping utilizing the red cells of patients deficient in erythrocyte PGK (37) and pyruvate kinase are now in progress. These experiments will provide more secure data concerning the pump dissociation that is suggested by the studies of glucose-free red cells.…”

Section: Energy Metabolism In Human Erythrocytesmentioning

confidence: 99%

Energy metabolism in human erythrocytes

Feig¹,

Segel²,

Shohet³

et al. 1972

J. Clin. Invest.

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A B S T R A C T Normal red cells were incubated in the absence of glucose to develop a system in which total adenosine triphosphate (ATP) turnover could be assessed. After 1 hr, the triose pool had been completely consumed. Thereafter, the metabolism of 2,3-diphosphoglycerate (DPG) to pyruvate and lactate was the sole significant source of ATP synthesis.1-'M CuC12, which did not enter the cells, diminished ATP utilization by more than 50%. This could be only partially attributed to the inhibition by copper of residual acylation and cation pumping, which were already reduced by glucose depletion. Other membrane enzymes, which presumably function in the maintenance of membrane integrity, must, therefore, use a significant portion of erythrocyte ATP.The behavior of glucose-depleted red cells with respect to cation transport was complex. The addition of ouabain did not decrease ATP utilization in these red cells. Ouabain inhibitable potassium influx was nearly normal after triose depletion, but total potassium influx was decreased. In contrast, the ouabain inhibitable sodium efflux was markedly reduced after triose depletion, although the concentration of ATP was 70% of normal. The dissociation of monovalent cation pumping suggests that the energy for active sodium transport is derived from a specific source (such as the ATP produced by the phosphoglycerate kinase reaction) distinct from that for potassium transport.

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Section: Energy Metabolism In Human Erythrocytesmentioning

confidence: 99%

Energy metabolism in human erythrocytes

Feig¹,

Segel²,

Shohet³

et al. 1972

J. Clin. Invest.

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“…However, a significant deficiency of this enzyme in the patient's intact cells is considered very unlikely because of their low concentration of 2,3-DPG. In the only well documented cases of deficiency of PGK, 2,3-DPG was approximately twice normal (24).…”

Section: Methodsmentioning

confidence: 94%

Hemolytic anemia with impaired hexokinase activity

Keitt¹

1969

J. Clin. Invest.

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“…The X-linkage of G6PD and HGPRT is well established. That of PGK has recently been proven by pedigree analysis (10,11) and somatic-cell genetic studies (12). In addition, one of the pedigrees showed that PGK is not closely linked to G6PD (11).…”

mentioning

confidence: 97%

Cytological Mapping of Human X-Linked Genes by Use of Somatic Cell Hybrids Involving an X-Autosome Translocation

Grzeschik

Allderdice

Grzeschik

et al. 1972

Proc. Natl. Acad. Sci. U.S.A.

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Man-mouse and man-Syrian hamster somatic hybrid cell lines were prepared by fusion of mouse A9 or hamster TG2 cells, which are deficient in hypoxanthine-guanine phosphoribosyl transferase, with cells of a diploid fibroblastic strain, KOP-1, derived from a woman heterozygous for an X-autosome translocation. 61 clones were derived in nonselective medium and 85 sublines of these were derived in selective media: 53 in hypoxanthineaminopterine-thymidine and 32 in 8-azaguanine. All three human X-linked markers studied, i.e., hypoxanthineguanine phosphoribosyl transferase (EC 2.4.2.8), glucose-6-phosphate dehydrogenase (EC 1.1.1.49), and phosphoglycerate kinase (EC 2.7.2.3), were present together, or absent together, in most of these clones and sublines. However, loss or retention of only phosphoglycerate kinase was occasionally observed, even in the absence of selective growth, while no evidence of separation of hypoxanthine-guanine phosphoribosyl transferase from glucose-6-phosphate dehydrogenase occurred. Cytological examination of eight man-hamster clonal lines by the quinacrine fluorescent technique showed that human phosphoglycerate kinase was only present when the translocation chromosome carrying most of the long arm of the X chromosome was present. The presence of human glucose-6-phosphate dehydrogenase and hypoxanthine-guanine phosphoribosyl transferase was not related to the presence or absence of this chromosome, but appeared to be correlated with the presence of the other translocation chromosome.

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Hereditary Hemolytic Anemia Associated with Phosphoglycerate Kinase Deficiency in Erythrocytes and Leukocytes

Cited by 111 publications

References 24 publications

Energy metabolism in human erythrocytes

Energy metabolism in human erythrocytes

Hemolytic anemia with impaired hexokinase activity

Cytological Mapping of Human X-Linked Genes by Use of Somatic Cell Hybrids Involving an X-Autosome Translocation

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