title: Erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of 2 new cases, with a review of the literature.
abstract: We present 2 Norwegian siblings who we believe to be the first cases of pyrimidine 5'-nucleotidase deficiency diagnosed in the Scandinavian countries. In addition to the features presented by previously published cases, our patients exhibited signs of intravascular haemolysis with haemoglobinuria and increased loss of iron in the urine. The loss of iron has made iron medication necessary from time to time. A kidney biopsy from the oldest patient revealed accumulation of iron in the epithelium of the proximal tubuli. The kidneys were considerably enlarged in both patients, but with normal function tests.
mesh_terms: D015720:5'-Nucleotidase; D000227:Adenine Nucleotides / Q000097:blood; D000293:Adolescent; D000328:Adult; D002648:Child; D004912:Erythrocytes / Q000201:enzymology*; D005260:Female; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics; D012016:Reference Values; D012265:Ribonucleotides / Q000097:blood
chemical_list: D000227:Adenine Nucleotides; D012265:Ribonucleotides; D009708:Nucleotidases; D015720:5'-Nucleotidase