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Abstract
A recent study showed significantly higher body fat percentage among subjects with phenylketonuria (PKU) compared to controls. Several studies have suggested a relationship between body composition and blood phenylalanine (phe) concentrations, but this has not been consistently reported in the literature. The body composition of patients with PKU followed at Doernbecher Children’s Hospital is unknown. In this project we aimed to determine if there is a difference in body composition of patients with PKU and patients in the general pediatric population. Furthermore, within the population with PKU we aimed to determine if there is a relationship between body composition and blood phe control.