Aim: Phenylketonuria (PKU) is an inherited metabolic disorder in which accumulation of phenylalanine (Phe) leads to poor neurological outcomes without treatment. Dietary therapy is the main treatment and nonadherence is associated with elevated blood Phe levels and correspondingly poor neuropsychiatric outcomes. This study aimed to examine the effect of home visits on blood Phe levels in PKU patients.
Methods: Sixty-five paediatric PKU patients who were on low-phenylalanine diet were visited monthly at home for 6 months. At each visit, dietary education was provided, patients' height and weight were measured and blood samples were collected.
Results: Twenty-eight (43.1%) patients had classic PKU and 37 (56.9%) had moderate PKU. Blood Phe levels decreased statistically significant at first, second, fifth, and sixth months compared with screening visit. Blood Phe levels in moderate PKU patients decreased significantly at the last visit unlike classic PKU patients. A significant decrease in blood Phe levels was observed in patients older than 10 years. Anthropometric parameters improved.
Conclusions: Dietary nonadherence is the main treatment failure in PKU. Home visits for education are a promising way to improve treatment outcomes by providing quality education, better assessment, and correction of mistakes but they should be ongoing and supported by different interventions that address patients' special needs.
Keywords: childhood nutrition; diet; dietary adherence; home visit; phenylketonuria.
© 2023 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).