Four new pyruvate kinase (PK) variants and a classical PK deficiency

British Journal of Haematology
S MiwaE Oda

Abstract

Four new red-cell pyruvate kinase (PK) variants are presented along with one case of so-called classical type PK deficiency. PK 'Tokyo II' had a low activity, Km (PEP) and Vmax, but a normal urea stability and only slight deviation from normal in neutralization tests by antiserum. It had a normal nucleotide specificity, abnormal electrophoretic mobility (fast moving) and the variant was associated with a mild hemolytic anaemia. PK 'Maebashi' had a low activity, high Km (PEP), low Vmax, urea instability, decreased reactivity to antiserum, normal electrophoretic mobility, normal nucleotide specificity and was associated with a moderate haemolytic anaemia. PK 'Tsukiji' had low activity, high Km (PEP), markedly high Vmax, urea instability, decreased reactivity to antiserum, abnormal electrophoretic mobility (fast moving) and grossly abnormal nucleotide specificity especially abnormal behaviour to ADP. The haemolytic process in this case was moderate to severe. PK 'Ube' was electrophoretically abnormal (fast moving) but otherwise had normal characteristics and the propositus was healthy and not anaemic. PK 'Ube' was found by electrophoretic screening for genetic PK polymorphism. In the classical type PK deficiency, the usual red-cel...Continue Reading

References

Jan 1, 1971·Scandinavian Journal of Haematology·N J Brandt, H K Hanel
Feb 12, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·K G BlumeE Beutler
Feb 28, 1972·Biochimica Et Biophysica Acta·G J StaalJ G Nijessen
Mar 1, 1971·The Journal of Clinical Investigation·W C MentzerD G Nathan
Apr 27, 1971·Biochimica Et Biophysica Acta·J F KosterL van Milligan-Boersma
Jan 1, 1968·Enzymologia Biologica Et Clinica·R H BigleyR D Koler
Sep 1, 1969·British Journal of Haematology·F A Oski, H Bowman
Aug 15, 1966·Klinische Wochenschrift·D Busch, K Pelz

❮ Previous
Next ❯

Citations

Jan 1, 1979·Human Genetics·A KahnJ C Dreyfus
Oct 7, 1975·Humangenetik·A KahnP Boivin
Jul 1, 1982·Pflügers Archiv : European journal of physiology·R Franzke, W Jelkmann
Dec 27, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·K NakashimaS Miwa
Apr 1, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·G E StaalM L Hamelink
May 3, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·H GarreauA Najman
Apr 15, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·E OdaS Miwa
Dec 1, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·J MarieB Kernemp
Aug 1, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·M GherardiH Vergnes
Feb 15, 1977·Clinica Chimica Acta; International Journal of Clinical Chemistry·A KahnP Boivin
Apr 2, 1979·Clinica Chimica Acta; International Journal of Clinical Chemistry·J MarieA Kahn
Dec 9, 1982·Clinica Chimica Acta; International Journal of Clinical Chemistry·L DenteL Luzzatto
May 29, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·J J Kaneko
Jan 1, 1989·Comparative Biochemistry and Physiology. B, Comparative Biochemistry·M Inaba, Y Maede
Feb 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·K AdachiE Schwartz
Dec 1, 1978·British Journal of Haematology·A ZanellaG Sirchia
Jul 1, 1983·British Journal of Haematology·S TakegawaS Miwa
Mar 1, 1981·British Journal of Haematology·G E ElderJ M Bridges
Aug 1, 1980·British Journal of Haematology·S MiwaN Ninomiya
Dec 14, 2011·Cancer Letters·Jing ChenXun Hu
Jan 15, 2008·The International Journal of Biochemistry & Cell Biology·Jungwoon LeeJungho Kim
Feb 1, 1984·Biochemical Medicine·S FujiiT Kaneko
Mar 13, 1987·Biochemical and Biophysical Research Communications·K TaniS Miwa
Jun 1, 1980·Jinrui idengaku zasshi. The Japanese journal of human genetics·S Miwa
Dec 12, 2018·International Journal of Mycobacteriology·Pavan GollapaliManjunatha Hanumanthappa
Jan 1, 1981·American Journal of Hematology·R RosaJ Rosa
Jan 1, 1979·American Journal of Hematology·S Miwa
Jan 27, 2019·British Journal of Haematology·Rachael F GraceWilma Barcellini
Jan 1, 1981·American Journal of Hematology·Y IshidaK Yamato
Jun 1, 1983·American Journal of Hematology·S Miwa
Jul 1, 1977·Scandinavian Journal of Haematology·P BoivinC Lausecker
May 1, 1975·Scandinavian Journal of Haematology·K KubotaS Miwa
May 1, 1990·American Journal of Hematology·R IekiF Takaku
Mar 18, 1999·Biochemical and Biophysical Research Communications·K Yamada, T Noguchi

❮ Previous
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