Abstract
There are multiple tissue specific AMP deaminase isozymes in human. These are erythrocyte type (E1 , E2), liver type (L) and muscle type (M). The deficiency of isozyme M has been reported.
Five individuals with complete deficiency of erythrocyte AMP deaminase have been discovered. The subjects had normal values for complete blood count and there was no evidence of hemolysis or hematological disorder. The ATP content was 50 % higher than normal control, but other purine metabolizing enzymes tested revealed normal levels of activity. AMP deaminase levels of mononuclear cells and platelets were normal, as suggested from the previous results of existence of L isozyme in these cells. Of the known AMP deaminase isozymes, E2 is very similar to E1 in immunological properties and kinetic properties. The subject with complete deficiency of erythrocyte AMP deaminase lacks both E1 and E2, indicating that these two isozymes are the product of the same gene.
From the familiar study, it is evident that the deficiency is inherited as an autosomal recessive trait. The frequency of heterozygote of mutant gene is approximately 1/30, resulting in one complete deficiency in about 3,600 population. This frequency is surprisingly high. Thus the erythrocyte AMP deaminase deficiency must be one of the most common enzyme deficiencies.
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Ogasawara, N., Goto, H., Yamada, Y. et al. DEFICIENCY OF ERYTHROCYTE TYPE ISOZYME OF AMP - DEAMINASE IN HUMAN: 148. Pediatr Res 19, 768 (1985). https://doi.org/10.1203/00006450-198507000-00168
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DOI: https://doi.org/10.1203/00006450-198507000-00168
