Dietetic Treatment of Phenylketonuria: A Follow-up Study

Abstract

From 1955 to the end of 1965 57 children with phenylketonuria, who were treated or at least given a trial of treatment, were studied. Only 10 of the patients were detected in infant welfare centres, and only two of these were under 6 weeks of age. Seven were detected because a previous sibling had the condition. Unfortunately, the majority were discovered after mental subnormality had become apparent. The best results were obtained when treatment was started in early infancy. Sometimes surprisingly good results occurred in older children, with a rise in intelligence level which enabled them to go to a school for the educationally subnormal or to a normal school. All but three of the 18 children with epilepsy responded badly to dietary treatment. There was no evidence that dietary treatment resulted in poor physical development. © 1967, British Medical Journal Publishing Group. All rights reserved.