[A schizophrenia-like variant of phenylketonuria]

Abstract

In the clinical picture of 121 patients from 1 to 14 years among the group of 250 with phenylketonuria (48.4%), besides symptoms of mild mental retardation, there were also signs of autism, shallow emotional reactions and catatonic disturbances. This group was distinguished as a special schizophreno-like variant of phenylketonuria. A study of the age and therapeutical dynamics of the psychotic symptomatology has demonstrated that the schizophreno-like syndrome in phenylketonuria may be transient (63 cases) and more stable (58 cases) and does not depend upon the content of hyperphenilalaninemia, the genetical variant of the disorder and hereditary loading by schizophrenia. It is concluded that the schizophreno-like symptomatology in phenylketonuria develops due to a pleiotropic effect of the phenylketonuric gene.