Parental Knowledge of Phenylketonuria and the Effects of Phenylalanine Levels of Children with Phenylketonuria

Abstract

Parental knowledge of phenylketonuria (PKU) may influence metabolic control of plasma phenylalanine (Phe) concentrations in children with PKU. Parents of children with PKU aged birth to 18 years were recruited to participate in a research study after attending the 2010 and 2012 annual Tennessee PKU Foundation meetings and via PKU support groups found on Facebook. Parents completed an online questionnaire to assess overall knowledge of PKU and their children's Phe management.

Because of the small sample (n = 7), results are reported as case studies. In general, knowledge scores were higher for parents of the teenagers than for the younger children. Parents reported that children with lower serum Phe levels were on less restrictive diets and received less frequent Phe monitoring. The only child with elevated Phe levels was on the most restrictive diet and received more medicated foods and Phe-reducing medication.