LIQUID-CHROMATOGRAPHIC STUDY OF PURINE METABOLISM ABNORMALITIES IN PURINE NUCLEOSIDE PHOSPHORYLASE-DEFICIENCY

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, Concentrations of inosine and guanos ine were abnormally high in urine and plasma, whereas guanosine diphos phate (GDP) and guanosine triphosphate (GTP) concentrations in erythro cytes were depleted, The unusual presence of deoxyribonucleosides (deo xyinosine and deoxyguanosine) and deoxyribonucleotides (dGDP and dGTP) was also notable, Thus, HPLC represents an accurate and useful tool f or the study of purine metabolic disorders.