Phenylketonuria (PKU) and Hyperphenylalaninemia Clinical Trial
Official title:
Nutrition Status of Adult and Adolescent Patients With Classical Phenylketonuria (PKU) and Hyperphenylalaninemia
The mainstay of PKU treatment is a low-phenylalanine diet (i.e restriction of natural
protein), and supplementation with a protein substitute (a mixture of amino acids free from
phenylalanine, also containing micronutrients and vitamins) and special low-protein foods,
to meet the patient's energy requirements. When diet and treatment is relaxed after
childhood, adult and adolescent patients with phenylketonuria are at risk for malnutrition,
depending on the compliance with treatment and the intake of amino acid supplements.
In this study, nutrition status of patients with PKU and hyperphenylalaninemia is
systematically assessed under ongoing current treatment, in relation to Phe-tolerance,
compliance with treatment, and psychosocial issues.
Study participants do not undergo any specific therapeutic or diagnostic intervention.
n/a
Observational Model: Cohort, Time Perspective: Cross-Sectional