Detection of phenylketonuria in autistic and psychotic children
T. L. Lowe, K. Tanaka, M. R. Seashore, J. G. Young and D. J. Cohen
Sixty-five children with pervasive developmental disturbance (autism and
atypical childhood psychosis) were screened by standard urinary amino acid
detection testing methods. Three of the children showed abnormalities in
these screening tests, leading to the diagnosis of phenylketonuria. This
was verified by repeated urinary testing and blood phenylalanine
determinations. The children with phenylketonuria were treated with
low-phenylalanine diets and have shown improvement in functioning and
developmental level since treatment. Urinary genetic screening should be a
standard test for all children being evaluated for serious developmental
disturbances of childhood.
