PhD Scientific Days 2021

Budapest, 7-8 July 2021

CL_IV_L: Clinical Medicine IV. Lectures

Altered body composition in adult patients with Phenylketonuria

András Gellért Barta a, Dóra Becsei b, Erika Kiss b, Csaba Sumánszki a, Erika Simonová b, Péter Reismann a
a: Department of Internal Medicine and Oncology, Semmelweis University, Korányi Sándor street 2/a, Budapest 1083, Hungary
b: 1st Department of Pediatrics, Semmelweis University, Bókay János street 53-54, Budapest 1083, Hungary

Text of the abstract

Introduction: Patients with Phenylketonuria (PKU) follow a life-long, protein restricted diet with added aminoacid supplementation. Although the strict diet puts them at risk for nutritional disturbances, body composition and nutritional status is only partially explored.
Aims: This research aims to assess body composition of adult patients with PKU using multifrequency bioimpedance analysis (MF-BIA) and to provide detailed body composition comparison between patients and healthy controls.
Methods: This is a single-centre, cross-sectional study in which we included fifty adult patients with early-treated PKU and forty age- and gender-matced controls. Serum nutritional markers were measeured and MF-BIA was performed in all subjects. We compared body composition of patients with PKU and healthy controls using the BIA method.
Result: The proportion of overweight was 56% in the PKU group. Female patients had higher body fat percentage compared to healthy controls. On the other hand, we observed lower muscle mass, protein and mineral content among female patients with PKU compared to controls. These findings were not seen in male patients. Therapy adherence was less optimal in female than in male patients.
Conclusion: According to these results, obesity is an important comorbidity in young adult patients with PKU, especially in females. Regular nutritional assessments and weight management should be additional objectives of management to provide optimal care.

Funding: This presentation was funded by Semmelweis 250+ PhD scholarship (EFOP-3.6.3-VEKOP-16-2017-00009).

University and Doctoral School

Semmelweis University, Károly Rácz Doctoral School of Clinical Medicine