Body composition profile of young patients with phenylketonuria and mild hyperphenylalaninemia.

Background: There is evidence in support of low bone density in young patients with disorders of phenylalanine metabolism; however, little is known about muscle and fat mass in these patients, especially in those with mild hyperphenylalaninemia (mHPA).

Objectives: We aimed to evaluate body composition of children and adolescents with early-diagnosed disorders of phenylalanine metabolism.

Patients And Methods: The study was conducted in the Institute of Child Health, which is the national center that performs newborn screening.