The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

The ricinine content of etiolated seedlings of Ricinus communis increased nearly 12-fold over a 4-day period. In plants quinolinic acid is an intermediate in the de novo pathway for the synthesis of pyridine nucleotides. The only known enzyme in the de novo pathway for pyridine nucleotide biosynthesis, quinolinic acid phosphoribosyltransferase, increased 6-fold in activity over a 4-day period w...

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

Subjects with the Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency with self-mutilation) exhibit an apparently unique pattern of adrenergic dysfunction characterized by elevated plasma dopamine beta-hydroxylase activity and an absence of pressor response to acute sympathetic stimulation. Patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltran...

The contribution of reduced purine salvage to the hyperuricemia associated with hypoxanthine-guanine phosphoribosyltransferase deficiency was measured by the intravenous administration of tracer doses of [8-(14)C]adenine to nine patients with normal enzyme activity, three patients with a partial deficiency of hypoxanthine-guanine phosphoribosyltransferase, and six patients with the Lesch-Nyhan ...

1. The formation of adenosine 5'-phosphate, guanosine 5'-phosphate and inosine 5'-phosphate from [8-(14)C]adenine, [8-(14)C]guanine and [8-(14)C]hypoxanthine respectively in the presence of 5-phosphoribosyl pyrophosphate and an extract from Ehrlich ascites-tumour cells was assayed by a method involving liquid-scintillation counting of the radioactive nucleotides on diethylaminoethylcellulose pa...

Of 142 purines, purine nucleosides, and analogues tested for inhibition of growth of Escherichia coli B Hill, 45 were active. Of these, 27 were evaluated for inhibition of other E. coli lines, including those resistant to 6-thioguanine, 2-fluoroadenosine, 2,6-diaminopurine, or 6-mercaptopurine. Most toxic to the parent lines were 2-fluoroadenosine, 2-fluoroadenine, 2-fluoro-5'-deoxyadenosine, a...