title: Analysis of body composition and nutritional status in Brazilian phenylketonuria patients.
abstract: 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.
authors.affiliation: Programa 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.
authors.forename: Priscila Nicolao
authors.initials: PN
authors.lastname: Mazzola
authors.affiliation: Post-Graduation Program in Genetics and Molecular Biology, UFRGS, Bento Gonçalves 9500/43323M, PO Box 15053, Porto Alegre, Brazil.
authors.forename: Tatiele
authors.initials: T
authors.lastname: Nalin
authors.affiliation: Postgraduate Program in Pediatrics and Adolescent Health, UFRGS, Ramiro Barcelos 2400, 90035-003, Porto Alegre, Brazil.
authors.forename: Kamila
authors.initials: K
authors.lastname: Castro
authors.affiliation: Beatrix Children's Hospital, Section of Metabolic Diseases, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Margreet
authors.initials: M
authors.lastname: van Rijn
authors.affiliation: Beatrix Children's Hospital, Section of Metabolic Diseases, University Medical Center Groningen, University of Groningen, PO Box 30.001, 9700 RB, Groningen, The Netherlands.
authors.forename: Terry G J
authors.initials: TG
authors.lastname: Derks
authors.affiliation: Postgraduate Program in Collective Health, Health Unit, Universidade do Extremo Sul Catarinense, Universitária 1105, 88806-000 Criciúma, Brazil.
authors.forename: Ingrid D S
authors.initials: ID
authors.lastname: Perry
authors.affiliation: Department of Pediatrics, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos 2400, 90035-003 Porto Alegre, Brazil.
authors.forename: Alberto Scofano
authors.initials: AS
authors.lastname: Mainieri
authors.affiliation: Post-Graduation Program in Genetics and Molecular Biology, UFRGS, Bento Gonçalves 9500/43323M, PO Box 15053, Porto Alegre, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Rua Ramiro Barcelos 2350, 90035-003 Porto Alegre, Brazil.
authors.forename: Ida Vanessa D
authors.initials: IV
authors.lastname: Schwartz
keywords: Bioelectrical impedance; Body composition; Inborn errors of metabolism; Nutritional status; Phenylketonuria