[Clinical characteristics of the psychopathological variant of hereditary purinosis]

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.