Deficiency of AMP Deaminase in Human Erythrocytes
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At the Vth International Symposium on Human Purine and Pyrimidine Metabolism in 1986 cases of a complete deficiency of erythrocyte AMP deaminase have been presented1. The deficiency was found to be inherited as an autosomal recessive trait. The frequency of mutant gene has been investigated in Japan, Seoul, and Taipei only and was found to be very high in the population of this regions2, ranging from 2.7 to 3.7 heterozygote of mutant gene per 100 population.
KeywordsHuman Erythrocyte Sodium Chloride Solution Half Saturation Constant Acid Citrate Solution Pyrimidine Metabolism
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- 1.N. Ogasawara, H. Goto, Y. Yamada and I. Hasegawa, Deficiency of erythrocyte type izozyme of AMP deaminase in human, in “Purine and Pyrimidine Metabolism in Man V”, W.L. Nyhan, L.F. Thompson and R.W.E. Watts, eds., Plenum Publishing Co., New York (1986)Google Scholar
- 2.N. Ogasawara, H. Goto, Y. Yamada, I. Nishigaki, T. Itoch, I. Hasegawa and K.S. Park, Deficiency of AMP deaminase in erythrocytes, Hum. Gen., 75: 15, (1987).Google Scholar