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Asperger's Syndrome and Aminoaciduria: A Case Example

An 18-year-old male, originally diagnosed as suffering from infantile autism but with a developmental history and clinical picture in keeping with Asperger's syndrome, and showing current signs of impairment of higher cerebral functioning, is presented. The subject and several males of his family present behavioural disturbances of an enduring type. An aminoaciduria was discovered in the subject and his father. A possible relationship between the metabolic disturbance and the neurological and behavioural disturbance is raised. Mechanisms for this relationship are discussed, including sporadic hyperlysinaemia.