Adenylate kinase deficiency

B15. Beutler, E., Carson, D., Dannawi, H., Forman, L., Kuhl, W., West, C., and Westwood, B., Metabolic compensation for profound erythrocyte adenylate kinase deficiency A hereditary enzyme defect without hemolytic anemia. J. Clin. Invest. 72,648-655 (1983). 

M14. Matsuura, S., Igarashi, M Tanizawa, Y., Yamada, M., Kishi, F Kajii, T Fujii, H., Miwa, S Sakurai, M., and Nakazawa, A., Human adenylate kinase deficiency associated with hemolytic anemia. A single base substitution affecting solubility and catalytic activity of cytosolic adenylate kinase. J. Biol. Chem. 264, 10148-10155 (1989). 

M25. Miwa, S., Fujii, H., Tani, K., Takahashi, K Takizawa, T., and Igarashi, T Red cell adenylate kinase deficiency associated with hereditary nonspherocytic hemolytic anemia Clinical and biochemical studies. Am. J. Hematol. 14,325-333 (1983). 

T18. Toren, A., Brok-Simoni, F Ben-Bassat, I., Holtman, F., Mandel, M., Neumann, Y., Ramot, B., Rechavi, G and Kende, G., Congenital haemolytic anaemia associated with adenylate kinase deficiency. Br. J. Haematol. 87,376-380 (1994). 

Lachant NA, Zerez CR, Barredo J, Lee DW, Savely SM, Tanaka KR. Hereditary erythrocyte adenylate kinase deficiency a defect of multiple phosphotransferases Blood 1991 77 2774-84. 

Szeinbeig, A., Kahana, D., Slava, G., Zaidman, J., and Ben-Ezzer, B Hereditary deficiency of adenylate kinase in red blood cells. Acta Haematol. 42,111-126 (1969). 

Controversy exists concerning the cause and effect relationships between deficiencies of the enzymes adenylate kinase (AK EC 2.7.4.3) and adenosine triphosphatase (ATPase EC 3.6.1.3) and hemolytic disease. Since the consensus seems to be that there is no association, these enzymes will not be discussed here. 

Fishbein, W.N., V.W. Armbrustmacher, and J.L. Griffin. 1980. Skeletal muscle adenylate deaminase, adenylate kinase, and creatine kinase in myoadenylate deaminase deficiency and malignant hyperthermia. Clin. Res. 28 288A. 

Vanadium. Vanadium is essential in rats and chicks (85,156). Estimated human intake is less than 4 mg/d. In animals, deficiency results in impaired growth, reproduction, and Hpid metaboHsm (157), and altered thyroid peroxidase activities (112). The levels of coen2yme A and coen2yme Q q in rats are reduced and monoamine oxidase activity is increased when rats are given excess vanadium (157). Vanadium may play a role in the regulation of (NaK)—ATPase, phosphoryl transferases, adenylate cyclase, and protein kinases (112). 

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