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Deficiency of pyrimidine 5′‐nucleotidase in human leukocytes
Author(s) -
Korte D.,
Doorn C. C. H.,
Sijstermans J. M. J.,
Gennip A. H.,
Roos D.
Publication year - 1989
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799216
Subject(s) - 5' nucleotidase , nucleotidase , nucleotide , pyrimidine , biology , medicine , immunology , biochemistry , chemistry , endocrinology , enzyme , gene
Summary Both erythrocytes and leukocytes from a patient with erythrocyte pyrimidine 5′‐nucleotidase (P5N) deficiency were shown to contain increased amounts of pyrimidine nucleotides. These findings suggested that the leukocytes were also deficient for P5N. Measurement of the P5N activity in lysates from lymphocytes or granulocytes, in the presence of inhibitors for non‐specific 5′‐nucleotidase or alkaline phosphatase, indeed showed a deficiency for P5N in lymphocytes and granulocytes of the patient with erythrocyte P5N deficiency. However, the P5N deficiency in the leukocytes did not cause clinical disturbances in addition to the weak haemolytic anaemia.