Journal of Autism and Developmental Disorders

, Volume 33, Issue 2, pp 201–204 | Cite as

Autism and Phenylketonuria

  • Sabrina BaieliEmail author
  • Lorenzo Pavone
  • Concetta Meli
  • Agata Fiumara
  • Mary Coleman


Phenylketonuria (PKU) has been also reported in children with infantile autism (IA); however, the frequency of this association is variably reported. Patients with various forms of hyperphenylalaninemia (HPA) were evaluated applying two methods: the Autism Diagnostic Interview-Revised (ADI-R) and the Childhood Autism Rating Scale (CARS). A total of 243 patients were investigated, 97 with classical PKU, 62 identified by neonatal screening, and 35 late diagnosed. None out of 62 patients with classic PKU diagnosed early met criteria for autism. In the group of 35 patients diagnosed late, two boys (5.71%) ages 16 and 13 years fulfilled the diagnostic criteria for autism. The present study confirms that classical PKU is one of the causes of autism, but the prevalence seems to be very low.

Phenylketonuria autism association 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. Bartholomè, K., Byrd, D. J., Kaufman, S., & Milstein, S. (1977). A typical phenylketonuria with normal phenylalanine hydroxylase and dihydropteridine reductase activity in vitro. Pediatrics, 59, 757–761.PubMedGoogle Scholar
  2. Bliumina, M. G. (1975). A schizophrenic-like variant of phenylketonuria. Zhurnal Nevropatrologii I Psikhiatrii Imeni S. S Korsakova, 75, 1525–1529.Google Scholar
  3. DeLong, G. R. (1999). Autism: New data suggest a new hypotesis. Neurology, 52, 911–916.PubMedGoogle Scholar
  4. Fombonne, E. (1997). Prevalence of autistic spectrum disorder in the UK. Autism: International Journal of Research and Practice, 1, 227–229.Google Scholar
  5. Fombonne, E., & du Mazaubrun, C. (1992). Prevalence of infantile autism in four French regions. Social Psychiatric Epidemiology, 27, 203–210.Google Scholar
  6. Friedman, E. (1969). The autistic syndrome and phenylketonuria. Schizophrenia, 249–261.Google Scholar
  7. Gillberg, C., & Coleman, M. (2000). The biology of the autistic syndromes (Third Ed.) London: Mac Keith Press.Google Scholar
  8. Gutierrez, G. C., Smalley, S. L., & Tanguay, P. E. (1998). Autism in tuberous sclerosis complex. Journal of Autism and Developmental Disorders, 28, 97–103.PubMedGoogle Scholar
  9. Knobloch, H., & Pasamanick, B. (1975). Some etiologic and prognostic factors in early infantile autism and psychosis. Journal of Pediatrics, 55, 182–191.Google Scholar
  10. Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders, 24, 659–685.PubMedGoogle Scholar
  11. Lowe, T. L., Tanaka, K., Seashore, M. R., Young, J. G., & Cohen, D. J. (1980). Detection of phenylketonuria in autistic and psychotic children. The Journal of the American Medical Association, 243, 126–128.Google Scholar
  12. Reiss, A. L., Feinstein, C., & Rosenbaum, K. N. (1986). Autism in genetic disorders. Schizophrenia Bulletin, 13, 724–738.Google Scholar
  13. Schopler, E., Reichler, R. J., & Renner, B. R. (1988). The Childhood Autism Rating Scale (CARS) Revised. Los Angeles: Western Psychological Services.Google Scholar
  14. Scriver, C. R., Kaufman, S., Eisensmith, R. C., & Woo, S. L. C. (1995). The hyperphenylalaninemias. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle (Eds.), The metabolic and molecular basis of inherited disease (7th ed. pp. 1015–1075). McGraw Hill.Google Scholar

Copyright information

© Plenum Publishing Corporation 2003

Authors and Affiliations

  • Sabrina Baieli
    • 1
    Email author
  • Lorenzo Pavone
    • 1
  • Concetta Meli
    • 2
  • Agata Fiumara
    • 1
    • 2
  • Mary Coleman
    • 3
  1. 1.Division of Paediatric Neurology, Department of PaediatricsUniversity of CataniaItaly
  2. 2.Regional Center for Inborn Errors of Metabolism, Department of PaediatricsUniversity of CataniaItaly
  3. 3.Department of PaediatricsGeorgetown University School of MedicineWashington, DCUSA

Personalised recommendations