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What is Pyrimidine 5'-Nucleotidase deficiency presents clinically as: and explain in detail?
Pyrimidine 5'-Nucleotidase (P5N) Deficiency : P5N is a key enzyme in the catabolism of nucleotides arising from the degradation of nucleic acids that takes place in the final stages of red cell maturation. How exactly its deficiency causes hemolytic anemia is not well understood, but a highly distinctive feature of this condition is a morphologic abnormality of the red cells known as basophilic stippling. The condition is rare, but it probably ranks third in frequency among red cell enzyme defects. The anemia is lifelong, of variable severity, and may benefit from splenectomy Ref: Harrison's principle of internal medicine 17th edition, chapter 101.