title: Hereditary hemolytic anemia with erythrocyte pyrimidine 5'-nucleotidase deficiency in Spain. Clinical, biological and familial studies.
abstract: We report a hereditary hemolytic anemia associated with a severe erythrocyte pyrimidine 5'-nucleotidase deficiency in a Spanish family of five members in which the parents are first cousins. Both parents exhibited decreased nucleotidase activity without clinical or hematologic abnormalities. Two children (a male and a female) showed severe pyrimidine 5'-nucleotidase deficiency with hemolytic anemia. The remaining child (a male) showed no signs of the disease. The findings strongly suggest an autosomal recessive mode of inheritance in this enzymopathy. This seems to be the first report of pyrimidine 5'-nucleotidase deficiency in Spain.
mesh_terms: D000255:Adenosine Triphosphate / Q000097:blood; D000293:Adolescent; D000743:Anemia, Hemolytic / Q000201:enzymology* / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005808:Genes, Recessive; D005978:Glutathione / Q000097:blood; D006801:Humans; D008297:Male; D009708:Nucleotidases / Q000172:deficiency*; D010375:Pedigree; D011742:Pyrimidine Nucleotides; D012268:Ribose-Phosphate Pyrophosphokinase / Q000172:deficiency; D013030:Spain; D013056:Spectrophotometry, Ultraviolet
chemical_list: D011742:Pyrimidine Nucleotides; D000255:Adenosine Triphosphate; D012268:Ribose-Phosphate Pyrophosphokinase; D009708:Nucleotidases; D005978:Glutathione