title: A family with chronic haemolysis and selective accumulation of erythrocyte CDP-choline.
abstract: In this paper, we report a family with compensated chronic haemolysis where the only erythrocyte abnormality detected was an increased level of erythrocyte CDP-choline. Using 31P-NMR spectroscopy and enzymatic analysis the possibility of a pyrimidine 5'-nucleotidase deficiency was excluded. Thus, this family represents the first evidence for a hereditary haemolytic anaemia where the inferred enzymatic defect is located to choline phosphotransferase, the enzyme catalysing the final step in lecithin synthesis. The family history indicates an autosomal dominant mode of transmission with incomplete penetrance.
authors.forename: A
authors.initials: A
authors.lastname: Petersen
authors.forename: N
authors.initials: N
authors.lastname: Borregaard
mesh_terms: D015720:5'-Nucleotidase / Q000097:blood; D000244:Adenosine Diphosphate / Q000097:blood; D000255:Adenosine Triphosphate / Q000097:blood; D000328:Adult; D000743:Anemia, Hemolytic / Q000097:blood*; D003566:Cytidine Diphosphate Choline / Q000097:blood*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006461:Hemolysis; D006801:Humans; D008297:Male; D010375:Pedigree
chemical_list: D003566:Cytidine Diphosphate Choline; D000244:Adenosine Diphosphate; D000255:Adenosine Triphosphate; D015720:5'-Nucleotidase