PMID: 708891Nov 13, 1978Paper

Creatine kinase in human erythrocytes: a newly detected genetic anomaly

Blut
H ArnoldR Beckmann

Abstract

In a family of Italian origin, we found four members with a considerable activity of creatine kinase inside their erythrocytes. All other clinical and hematological findings were normal. The enzyme anomaly seems to be inherited in the autosomal mode. The creatine kinase CK) activity in freshly drawn blood was about 12 U/g Hb. The activity was higher in young red cells than in older ones. Studies with specific antibodies against human CK isoenzymes revealed the CK activity in the probands' red cells to be due to about 90% to the BB-isoenzyme normally found in brain and nerve tissue. The presence of CK in the erythrocytes does not seem to have any consequences for the energy metabolism of the cells. Creatine concentration was slightly elevated, but creatine phosphate could not be detected.

References

Feb 8, 1975·Clinica Chimica Acta; International Journal of Clinical Chemistry·E Jockers-Wretou, G Pfleiderer
Sep 27, 1975·British Medical Journal·H ZellwegerA Antinik
Apr 23, 1970·The New England Journal of Medicine·J N Mork
Nov 22, 1965·Biochemical and Biophysical Research Communications·D M DawsonN O Kaplan
Aug 15, 1966·Klinische Wochenschrift·D Busch, K Pelz
Mar 1, 1967·British Journal of Haematology·W J Griffiths, M Fitzpatrick
Apr 3, 1962·Biochemical and Biophysical Research Communications·H J HOHORSTH BARTELS

Related Concepts

Creatine
Macro-Creatine Kinase
Erythrocytes
Alloenzymes
Neoton

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