Pyrimidine 5′‐nucleotidase activity in normal and deficient human lymphoblastoid cells

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Abstract
Summary: Two distinct pyrimidine 5′‐nucleotidases (UMPH‐1 and UMPH‐2) have previously been detected in human erythrocytes; UMPH‐1 is deficient in a haemolytic anaemia, while UMPH‐2 is unaffected. Only the erythrocyte shows pathological effects in this disorder. Here we have studied lymphoblastoid cell lines from control and UMPH‐1 deficient patients to determine whether UMPH‐1 can be detected in lymphoblastoid cells and whether the deficiency of UMPH‐1 results in any measurable metabolic effects. Both UMPH‐1 and a UMPH‐2‐like activity were found to be present in control lymphoblastoid cells. UMPH‐1 was undetectable in the patients' cells; minor but significant changes were found in the pyrimidine nucleotide and nucleoside pools in the cells.