Ontology highlight
ABSTRACT:
SUBMITTER: Mazzola PN
PROVIDER: S-EPMC4789337 | biostudies-literature | 2016 Mar
REPOSITORIES: biostudies-literature
Mazzola Priscila Nicolao PN Nalin Tatiele T Castro Kamila K van Rijn Margreet M Derks Terry G J TG Perry Ingrid D S ID Mainieri Alberto Scofano AS Schwartz Ida Vanessa D IV
Molecular genetics and metabolism reports 20160109
<h4>Background</h4>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.<h4>Methods</h4>Twenty-seven treated PKU patients older than 5 years, and 27 a ...[more]