Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase.
Two subjects, not previously reported in detail, had severe inherited deficiencies of erythrocyte pyrimidine nucleotidase. This was manifested hematologically by moderate hemolytic anemia with splenomegaly, morphologically by punctate basophilic stippling of Wright's stained erythrocytes, and biochemically by intraerythrocytic accumulation of pyrimidine nucleotides, elevated concentrations of reduced glutathione, and partial deficiencies of ribosephosphate pyrophosphokinase. All 5 of their children were asymptomatic and phenotypically normal except for intermediate reductions in activities of pyrimidine nucleotidase consistent with heterozygosity for an autosomal recessive defect.
D015720:5'-Nucleotidase; D000227:Adenine Nucleotides / Q000097:blood; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006019:Glycolysis; D006801:Humans; D008875:Middle Aged; D009708:Nucleotidases / Q000172:deficiency*; D012268:Ribose-Phosphate Pyrophosphokinase / Q000032:analysis / Q000172:deficiency
D000227:Adenine Nucleotides; D012268:Ribose-Phosphate Pyrophosphokinase; D009708:Nucleotidases; D015720:5'-Nucleotidase