Study of a case with severe red-cell pyrimidine 5'-nucleotidase deficiency.
A deficiency of erythrocyte pyrimidine 5'-nucleotidase was found in a 23-year-old male suffering from severe congenital hemolytic disease. Results from exhaustive metabolic exploration are given and compared with reticulocyte-rich blood from subjects with auto-immune hemolytic disease. Evidence is given that the 20% apparent P5N residual activity corresponds to a non-specific acid phosphatase.
D000328:Adult; D000744:Anemia, Hemolytic, Autoimmune / Q000097:blood / Q000201:enzymology; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000201:enzymology*; D001772:Blood Cell Count; D004912:Erythrocytes / Q000032:analysis / Q000201:enzymology*; D005260:Female; D006400:Hematocrit; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D010290:Parents; D011742:Pyrimidine Nucleotides / Q000378:metabolism; D013103:Spherocytosis, Hereditary / Q000097:blood / Q000201:enzymology
D011742:Pyrimidine Nucleotides; D009708:Nucleotidases