title: Pyrimidine 5'-nucleotidase deficiency: improved detection of carriers.
abstract: The activities of pyrimidine 5'-nucleotidase (P5N) and the nucleotide pools in the erythrocytes from 19 members of a Dutch family with P5N deficiency were measured. In the erythrocytes of 5 (out of 6) apparent heterozygotes (based on P5N activities), an increased amount of UDP-N-acetylhexosamines was found. This increase was also found in the erythrocytes of 2 (out of 3) questionable heterozygotes (P5N activity below normal range, but not below normal mean--2 X SD) and not in the erythrocytes of family members with a normal P5N activity nor in erythrocytes from healthy donors. We conclude that analysis of the ribonucleotide patterns, in combination with determination of P5N activity, allows a more accurate diagnosis of heterozygosity for P5N.
authors.affiliation: Central Laboratory of the Netherlands Red Cross Blood Transfusion Service, Amsterdam.
authors.forename: D
authors.initials: D
authors.lastname: de Korte
authors.forename: J M
authors.initials: JM
authors.lastname: Sijstermans
authors.forename: M
authors.initials: M
authors.lastname: Seip
authors.forename: C C
authors.initials: CC
authors.lastname: van Doorn
authors.forename: A H
authors.initials: AH
authors.lastname: van Gennip
authors.forename: D
authors.initials: D
authors.lastname: Roos
mesh_terms: D015720:5'-Nucleotidase / Q000172:deficiency* / Q000235:genetics; D000745:Anemia, Hemolytic, Congenital / Q000201:enzymology*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000201:enzymology* / Q000235:genetics; D004912:Erythrocytes / Q000032:analysis / Q000201:enzymology*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D009711:Nucleotides / Q000032:analysis / Q000235:genetics; D014536:Uridine Diphosphate N-Acetylgalactosamine / Q000032:analysis; D014537:Uridine Diphosphate N-Acetylglucosamine / Q000032:analysis
chemical_list: D009711:Nucleotides; D014537:Uridine Diphosphate N-Acetylglucosamine; D014536:Uridine Diphosphate N-Acetylgalactosamine; D015720:5'-Nucleotidase