Phenylketonuria: A look at coping strategies, receiving the diagnosis, and what could be changed about treatment

Phenylketonuria (PKU) is an autosomal recessive disorder caused by a liver enzyme deficiency. This condition affects 1 in 10,000 in the United States and when untreated leads to mental retardation, microcephaly, behavior changes, skin conditions, and a musty body odor. Treatment with a modified diet has been available since the 1950s and has allowed individuals with PKU to develop relatively typically. Because of this effective treatment, PKU is often thought of by the medical community as a solved problem. However, living with PKU is not a simple task. This study aims to determine what supports, other than diet, need to be addressed for the PKU community. By addressing this need, it is hoped that there can be improved treatment and management of individuals with PKU.