Assessment of Lifestyle for Children with Phenylketonuria

Abstract

Children with PKU acquire the usual assortment of childhood illnesses, which might be accompanied by decreased intake of food and fluids. While this is often mild and self-limited, more severe or long lasting illnesses might require special management. When children with PKU decrease their energy and protein intake, they will experience some muscle catabolism to meet their immediate needs for glucose and protein synthesis. Because muscle contains substantial amounts of Phe, this will result in elevated Phe levels during illness. Ideally, this is managed by encouraging continued intake of low-Phe, higher energy–containing fluids, generally in the form of PKU formula (Meads, McKenna & Kahler, 2016). Although many children with PKU have no obvious school or behavioral issues, some experience challenges, and the emergence of a picture resembling attention deficit disorder (ADD) is not uncommon. While children with PKU and ADD are often treated for ADD using the same approaches that are used in other children, it can be extremely valuable to obtained tailed neuropsychological testing to inform school program planning and optimize therapy. Consultation with the metabolic center might be helpful in ensuring access to appropriate testing and follow-up (Ten Hoedt et al., 2018).