Related Experiment Video
Updated: Mar 23, 2026

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
Analysis of body composition and nutritional status in Brazilian phenylketonuria patients
Priscila Nicolao Mazzola1, Tatiele Nalin2, Kamila Castro3
1Programa de Pós-Graduação em Ciências Biológicas: Bioquímica, Universidade Federal do Rio Grande do Sul (UFRGS), Ramiro Barcelos 2600 anexo, 90035-003, Porto Alegre, Brazil; Beatrix Children's Hospital, Section of Metabolic Diseases, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
Background:
Phenylketonuria (PKU) is characterized by phenylalanine (Phe) accumulation to toxic levels due to the low activity of phenylalanine-hydroxylase. PKU patients must follow a Phe-restricted diet, which may put them in risk of nutritional disturbances. Therefore, we aimed to characterize body composition parameters and nutritional status in Brazilian PKU patients also considering their metabolic control.
Methods:
Twenty-seven treated PKU patients older than 5 years, and 27 age- and gender-matched controls, were analyzed for anthropometric features and body composition by bioelectrical impedance (BIA). Patients' metabolic control was assessed by historical Phe levels.
Results:
There was no effect of PKU type, time of diagnosis, or metabolic control for any analyzed parameter. About 75% of patients and controls were eutrophic, according to their BMI values. There were no difference between groups regarding body composition and other BIA-derived parameters.
Conclusions:
Brazilian PKU patients do not show differences in body composition and nutritional status in comparison with controls, regardless metabolic control. Although similar to controls, PKU patients may be in risk of disturbed nutritional and metabolic markers as seen for the general population.
Related Concept Videos
Inborn Errors of Metabolism
Overview of Protein Metabolism
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
Chronic Kidney Disease III: Interprofessional Care
Pharmacokinetics in Pediatric Patients: Drug Metabolism
Pharmacokinetics in Pediatric Patients: Drug Distribution
Pharmacokinetics in Obese Patients: Drug Metabolism and Excretion

