title: [Pyrimidine-5'-nucleotidase deficiency--congenital hemolytic anemia with basophilic stippling of erythrocytes].
abstract: The disease is caused by a deficiency of the enzyme pyrimidine-5'-nucleotidase in the erythrocytes. About 50 cases have been published. We have diagnosed the disease in a pair of siblings from Numedal, Norway. Although this is a rare disorder it has a world-wide distribution. It is inherited as an autosomal recessive disease, and with genetic heterogeneity. In studies of iron balance we have found increased excretion of iron and hemoglobin in the urine, and free hemoglobin in plasma, indicating extravascular hemolysis. Kidney biopsy shows iron depositions in epithelial cells in proximal kidney tubules, localized to lysosomes. An evaluation by ordinary clinical examinations and laboratory tests do not indicate a progression of the disease over a ten-year period.
authors.affiliation: Barneklinikken Rikshospitalet, Oslo.
authors.forename: M
authors.initials: M
authors.lastname: Seip
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency*; D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male
chemical_list: D015720:5'-Nucleotidase