Phosphorylase kinase deficiency
Tóm tắt
Phosphorylase kinase deficiency in I strain mice and in humans both show X-chromosomal inheritance. Neither deficient adult humans nor deficient mice show any sign of disease. Thus the two conditions resemble each other. However, there are differences. The enzyme is only partially deficient in human patients in liver, muscle, and blood cells; in mice the deficiency is complete and seems to be confined to the muscles.
Tài liệu tham khảo
DeLange, R. J., Kemp, R. G., Riley, W. D., Cooper, R. A., and Krebs, E. G. (1968). Activation of skeletal muscle phosphorylase kinase by adenosine triphosphate and adenosine 3′,5′-monophosphate. J. Biol. Chem. 243 2200.
Fernandes, J., and Pikaar, N. A. (1969). Hyperlipemia in children with liver glycogen disease. Am. J. Clin. Nutr. 22 617.
Fernandes, J., Huijing, F., and Vande Kamer, J. H. (1969). A screening method for liver glycogen diseases. Arch. Disease Childhood 44 311.
Hers, H. G. (1959). Etudes enzymatiques sur fragments hepatique. Rev. Intern. Hepatol. 9 35.
Hers, H. G. (1965). Future trends in the investigation of glycogen storage disease. Israel J. Med. Sci. 1 6.
Hug, G., Schubert, W. K., and Chuck, G. (1969). Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. J. Clin. Invest. 48 704.
Huijing, F. (1964). Enzymafwijkingen in het perifere bloed bij glycogeenziekte. Thesis, University of Amsterdam, printed at VRB. Kleine der A 3–4, Groningen, The Netherlands.
Huijing, F. (1967). Phosphorylase kinase in leucocytes of normal subjects and of patients with glycogen storage disease. Biochim. Biophys. Acta 148 601.
Huijing, F. (1968). Enzymes of glycogen metabolism in leucocytes, in relation to glycogen storage disease. In Whelan, W. J. (ed.), Control of Glycogen Metabolism, Academic Press, New York, p. 115.
Huijing, F. (1969). In preparation.
Huijing, F., and Fernandes, J. (1969). X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. Am. J. Human Genet. 21 275.
Hülsmann, W. C., Oei, T. L., and van Creveld, S. (1961). Phosphorylase activity in leucocytes from patients with glycogen storage disease. Lancet 2 581.
Krebs, E. G., Love, D. S., Bratvold, G. A., Trayser, K. A., Meyer, W. L., and Fischer, E. H. (1964). Purification and properties of rabbit skeletal muscle phosphorylase b kinase. Biochemistry 3 1022.
Lyon, J. B. (1969). The X-chromosome and the enzymes controlling muscle glycogen. Paper presented at the Symposium on Genetic Control of Mammalian Metabolism held at The Jackson Laboratory, Bar Harbor, Maine, June 30–July 2. See Lyon, J. B. (1970). Biochem. Genet. 4 169.
Lyon, J. B., Jr., and Porter, J. (1962). The effect of pyridoxine deficiency on muscle and liver phosphorylase of two inbred strains of mice. Biochim. Biophys. Acta 58 248.
Lyon, J. B., Jr., Porter, J., and Robertson, M. (1967). Phosphorylase b kinase inheritance in mice. Science 155 1550.
Wallis, P. G., Sidbury, J. B., and Harris, R. C. (1966). Hepatic phosphorylase defect. Am. J. Diseases Children 111 278.
Walsh, D. A., Perkins, J. P., and Krebs, E. G. (1968). An adenosine 3′,5′-monophosphate dependent protein kinase from rabbit skeletal muscle. J. Biol. Chem. 243 3763.
Williams, H. E., and Field, J. B. (1961). Low leukocyte phosphorylase in hepatic phosphorylase deficient glycogen storage disease. J. Clin. Invest. 40 1841.