Health / Medical Topics

    Purine-Nucleoside Phosphorylase Deficiency

    PNP reversibly catalyzes the phosphorolysis of the purine nucleosides, (deoxy)inosine and (deoxy)guanosine, to their respective purine bases and the corresponding ribose-1-phosphate. Deficiency in this enzyme is an autosomal recessive cause of combined immunodeficiency. (NCI Thesaurus)




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