[Effect of a purine-free diet on the purine phosphoribosyltransferase activity of erythrocytes in patients with Lesch-Nyhan syndrome]. / Vliianie bespurinovoi diety na aktivnost' purinfosforiboziltransferazéritrotsitov u bol'nykh s sindromom Lesha-Nikhana.

Activity of purine phosphoribosyl transferases was studied in 11 patients with Lesch-Nyhan syndrome before and within 1 or 3 months after beginning of the purine-free diet treatment. The enzymatic activity tended to normalization within 1 month after the dietary treatment but the ratio of the enzymes activity was deteriorated within the subsequent 3 months of treatment. A positive clinical effect of the purine-free diet was noted.

[Clinical characteristics of the psychopathological variant of hereditary purinosis]. / Klinicheskaia kharakteristika psikhopatologicheskogo varianta nasledstvennogo purinoza.

The authors describe the clinical picture of hereditary purinosis with predominantly psychopathological manifestations in 12 boys, aged 12-15 years, identified among slightly oligophrenic children on the basis of the psychopathological similarity with the classical Lesh-Nyhan syndrome and the determination of the activity of purine phosphoribosyl transferases in erythrocyte lysates. The authors believe that diagnostically significant in such cases is a specific complex of disorders at the instinctive-emotional, psychomotor and intellectual levels. They also claim that this variant of hereditary purinosis is more prevalent than the classical one.