Complete deficiency of AMP deaminase in human erythrocytes.
Four individuals with complete absence of erythrocyte AMP deaminase have been discovered. The subjects appear to be perfectly healthy and there was no evidence of hemolysis. The deficiency was found only in erythrocytes and as expected, mononuclear cells and platelets showed normal level of activity. The activities of all the other purine metabolizing enzymes that were tested were normal. The deficiency is inherited as an autosomal recessive trait.
D000659:AMP Deaminase / Q000097:blood / Q000172:deficiency* / Q000235:genetics; D000328:Adult; D001792:Blood Platelets / Q000201:enzymology; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D009000:Monocytes / Q000201:enzymology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D010375:Pedigree
D009709:Nucleotide Deaminases; D000659:AMP Deaminase