Abstract
The deficiency was first found by Ogasawara et al /BBRC 1984, 122, 1344 - 1349, Hum.Genet. 1987, 75, 15 - 18/ to occur in Japan, Seoul and Taipei as one heterozygote in about 30 of the population. In order to find the frequency of the defect in the european area, 410 blood samples have been collected from the blood donors in the county blood center in Gdańsk /Poland/. The mean AMP deaminase activity in the erythrocytes was found to be 8.3 μmole ammonia/min per g hemoglobin, which is about 30% less than found in Japan but exactly the same which was found in U.S.A. by Campbell et al. /Clin.Chim Acta 1977, 79, 379 - 385/. Among the 410 individuals investigated 26 displayed half or less of the mean erythrocyte AMP deaminase activity. This could mean that the frequency of the mutant gene is one heterozygote in about 16 of the population in Poland. One case of a complete deficiency of the erythrocyte AMP deaminase activity was found in the family member of one of the heterozygotes. All the deficient subjects appeared to be perfectly healthy, there were no evidence of either anaemia or hemolysis.
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zydowo, M., Preis, J. & Ogasawara, N. 187 DEFICIENCY OF AMP DEAMINASE IN HUMAN ERYTHROCYTES. Pediatr Res 24, 142 (1988). https://doi.org/10.1203/00006450-198807000-00211
Issue Date:
DOI: https://doi.org/10.1203/00006450-198807000-00211