Using HPLC methods, we measured the concentrations of nucleosides and nucleotides for a
patient with no purine nucleoside phosphorylase (PNP; EC 2.4. 2.1) enzymatic activity …

The presenting features of PNP deficiency may be neurological, usually a mild non-
progressive spastic diplegia, or related to immunodeficiency which predominantly affects T …

By a sensitive enzyme-linked immunosorbent assay, inactive variant nucleoside
phosphorylase (NP) protein could be quantitated in red cells and cultured skin fibroblasts …

Inborn errors of purine and pyrimidine (P/P) metabolism are under-reported and rarely
mentioned in the general literature or in clinical practice, as well as in reviews dedicated to …

A 5-year-old girl with a history of recurrent infection and anæmia has no measurable purine
nucleoside phosphorylase (NP) activity in her red blood-cells. Her serum-immunoglobulin …

DEFICIENCY of the purine enzyme nucleoside phosphorylase is associated with a severe T-
lymphocyte immune deficiency. 1 2 3 4 5 6 The abnormality in the immune system results …

Objective: Autosomal-recessive pyridox (am) ine phosphate oxidase (PNPO) deficiency
causes pyridoxal-5-phosphate (PLP)-dependent epilepsy. We describe partial PNPO …

Discussion PNP deciency is an autosomal recessively inherited disease, in which purine
metabolites accumulate in lymphocytes and lead to progressive immunodeciency. Clinical …

Two independent mutations of purine nucleoside phosphorylase were identified in the first-
generation progeny of male mice that had been treated with the mutagen N-ethylnitrosourea …

Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem
disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome …