Diagnostic and Therapeutic Approaches in Pyrimidine 5′-Nucleotidase Deficiency
Hereditary deficiency of erythrocyte pyrimidine 5’nucleotidase results in a chronic haemolytic anaemia. The red cells show basophilic stippling and contain a markedly increased content of nucleotides, 3–6 times greater than normal, and 65 to 80% of nucleotides are pyrimidine in type (Valentine, et al., 1974; Torrance and Whittaker, 1979). Pyrimidine 5’nucleotidase is unique amongst the 5’nucleotidases in its strict substrate specificity for pyrimidine nucleoside 5’monophosphates, its pH profile, and for its cytosolic localisation (Paglia and Valentine, 1975).
KeywordsHigh Pressure Liquid Chromatography Orotic Acid Pyrimidine Nucleoside Pyrimidine Nucleotide Chronic Haemolytic Anaemia
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