Developing a guide for parents in phenylketonuria patients in infants and young children

Objective: To prepare a guide for the parents of phenylketonuria patients (infants and young children) in accordance with the evidence-based medical principles. Method: In order to prepare the guide, studies on phenylketonuria that were published in Pubmed database between the years 2009-2019 were evaluated. During the evaluation process, studies on animals and the ones that were not published in English were excluded. The priority was given to the studies that were carried out on the infants between the ages 0-2. The studies were classified according to their level of evidence by using the Scottish Interuniversity Guidelines Network and their degrees of advice were determined. Findings: A totality of 144 studies were classified. At the evidence-level of A, there were not any studies. At the evidence-level of B, advices/suggestions regarding the necessity of the neonatal screening program, the need to treat phenylketonuria patients, the targeted blood phenylalanine levels and the blood value monitoring parameters were generated. The vast majority of the advices that were generated concerning the follow-up and management of the disease were at the evidence-level of C and D. Conclusion: Clinical experience and expert opinions are of primary importance concerning the treatment of the disease. This guide, which is prepared for families, is mainly prepared with C and D level advices/suggestions. Families need to follow the guidelines in order to control the disease process well. Keywords: Phenylketonuria, family guide, disease management, newborn screening program, hereditary metabolic diseases