Patients with phenylketonuria (PKU) must follow a lifelong phenylalanine (Phe)-restricted
diet with additional amino acid supplementations, and this may put them at risk for
nutritional disturbances. However, the body composition and nutritional status of
adult patients with PKU has only been partially explored. The current study aims to
assess the body composition of adult patients with PKU using multifrequency bioimpedance
analysis (MF-BIA) and to reveal potential correlations between therapy adherence and
body composition. Additionally, we compared body composition of patients with healthy
controls.Fifty adult patients with early-treated PKU (27 female and 23 male) and 40
healthy, age- and gender-matched controls were included in this single-center, cross-sectional
study. MF-BIA was performed on all subjects. Additionally, we determined serum nutritional
markers for all patients. In the PKU patient group, correlation analyses were performed
between body composition parameters and therapy adherence. We compared body composition
of patients with PKU and controls using BIA.The proportion of overweight was 56% among
all patients with PKU. Female patients with PKU had significantly higher body fat
percentage compared with controls. In parallel with higher fat content, we observed
lower muscle mass, protein, and mineral content among female patients with PKU compared
to controls. Such findings were not observed in male patients. Female patients with
PKU had decreased therapy adherence and had significantly lower prealbumin levels
compared with males. There was no significant correlation observed between body composition
parameters and therapy adherence over the last 10 years in the PKU patient group.Although
female patients had less optimal therapy adherence over the last 10 years compared
with male patients, our results suggest that this does not influence body composition
fundamentally. Our results suggest that obesity is an important comorbidity in young
adult patients with PKU, especially in females. We advocate that nutritional assessments
and weight management should be additional objectives of PKU management to provide
optimal care.
