STUDY OF PURINE BASES AND NUCLEOSIDES IN VARIOUS STATES OF PATIENTS WITH INBORN ERRORS OF PURINE METABOLISM

概要

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Purine bases, nucleosides and uridine in plasma and cerebrospinal fluid of patients with inborn errors of purine metabolism were analyzed by the technique of high-performance liquid chromatography. Hypoxanthine levels in plasma of adenine phosphoribosyltransferase (APRT) deficiency increased. It suggests that purine de novo synthesis is accelerated in this disorder as in the cases of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency. In cases of APRT deficiency and familial gout with allopurinol administration hypoxanthine accumulated in less extent than HGPRT deficiency. It is considered to be due to suppression of purine de novo synthesis by allopurinol ribonucleotide. Plasma hypoxanthine and xanthine levels in partial HGPRT deficiency did not differ from those of Lesch-Nyhan syndrome and enormously increased with allopurinol administration as well as in Lesch-Nyhan syndrome. Hypoxanthine levels in cerebrospinal fluid also increased in both of partial HGPRT deficiency and Lesch-Nyhan syndrome with allopurinol therapy. There is neither deterioration nor improvement in clinical features during alloprinol therapy. The difference in clinicalfeatures between Lesch-Nyhan syndrome and partial HGPRT cannot be concluded to be due to accumulation of hypoxanthine alone.
名古屋市立大学の論文
1983-12-23