Assessment of adult phenylketonuria

Abstract

Phenylketonuria (PKU) has been detected on the newborn screening programme since the 1960s. Although it is recognised that dietary treatment is successful in avoiding the severe mental retardation associated with untreated PKU, the long-term outcome for adults remains unclear. The Medical Research Council recommends that the diet be followed for life. This paper discusses the relevance of the findings of neurological deterioration, neuropsychological problems and brain imaging in adults with PKU. It suggests an approach to follow-up for adults with PKU including neurological assessments, awareness of nutritional deficiencies, educational requirements and the risks of maternal PKU.