Autistic Symptoms in Late Diagnosed Phenylketonuric Children in Upper Egypt

Khaled Saad, Emad Hammad, Ahmed A. Abdel-rahman, Karema M. Sobhy


Background: Phenylketonuria (PKU) is the most common metabolic cause of mental retardation. Increased concentrations of Phe in PKU have a neurotoxic effect, contributing to the structural brain damage, severe mental retardation, and psychiatric disturbances. Co-occurrence of autism and PKU has been described in several studies. The toxic levels of Phe appear to play a significant role in the development of autism symptomatology. Our objective was to assess autistic features in a cohort of late diagnosed PKU children.

Methods: Thirty-two PKU pediatric patients diagnosed after the age of one year and followed up at Pediatric University Hospital, Assiut University, Egypt. DSM-IV TR and CARS were used for diagnosis and classification of autism cases. FSIQ and MRI brain were done for all cases. EEG was done for cases with convulsions.

Results: Autism was present in 8 (25%) cases; 3 were females and 5 were males, 2 had severe autism and 6 had mild/moderate autism, 5 patients had classic PKU and 3 had moderate PKU, 3 cases had mild mental retardation and five have moderate mental retardation.

Conclusion: Delay in the diagnosis and management of PKU leads to very high incidence of intellectual disabilities and autistic features in these patients.

J Neurol Res. 2013;3(3-4):122-129


Phenylketonuria; Autism; EEG

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