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CONCENTRATION OF PURINE NUCLEOTIDES IN ERYTHROCYTES OF PATIENTS WITH THE LESCH‐NYHAN SYNDROME BEFORE AND DURING ORAL ADMINISTRATION OF ADENINE

This paper presents the results of an investigation on the concentration of purine nucleotides in erythrocytes of two children with the Lesch‐Nyhan syndrome before and during oral adenine administration. The nucleotides AMP, ADP, ATP and GTP could be calculated. Before administration the patients showed a decreased concentration of the three adenine nucleotides expressed as pinoles per litre of free cell water. The concentration of GTP was found to be normal. After oral adenine administration, adenine nucleotides were found to be normal and GTP showed a slight increase. Some suppositions about the mechanism of increased purine synthesis de novo in patients with the Lesch‐Nyhan syndrome have been discussed.