[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.
D000228:Adenine Phosphoribosyltransferase / Q000097:blood; D000374:Aggression; D002648:Child; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood; D008607:Intellectual Disability / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis*; D013577:Syndrome
D000228:Adenine Phosphoribosyltransferase; D007041:Hypoxanthine Phosphoribosyltransferase
Klinicheskaia kharakteristika psikhopatologicheskogo varianta nasledstvennogo purinoza.