P P- P0 P1 P2 P3 P4 P5 P6 P7 P8 P9 PA PB PC PD PE PF PG PH PI PK PL PM PN PO PP PQ PR PS PT PU PV PW PX PY
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 )]
UMLS (NCI) C0268125- Disease or Syndrome
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