Abstract
ABSTRACTObjective: To verify the occurrence of overweight in children and adolescents with phenylketonuria and to identify possible causal factors.Data sources: A systematic review was performed in the SciELO, PubMed and VHL databases using the descriptors “Phenylketonurias”, “Overweight”, “Child” and “Adolescent”. Original articles conducted with children and adolescents, published between 2008 and 2018 in Portuguese, English or Spanish languages were included.Data synthesis: A total of 16 articles were identified and, after screening procedures, 6 studies were selected for the review. Overweight in children and adolescents with phenylketonuria was a frequent occurence in the studies included in this review, ranging from 7.8 to 32.6%. The female sex was the most affected by the nutritional disorder. Furthermore, a high caloric intake combined with a lack of stimuli to practice physical activities were main factors associated with the excessive weight in the population of interest.Conclusions: Excess weight can be considered a common outcome in children and adolescents with phenylketonuria. It is mainly caused by inadequate food consumption and sedentary lifestyle. The importance of early identification of nutritional disturbances in children and adolescents with phenylketonuria should be emphasized, in order to prevent associated chronic diseases and to promote health by encouraging continued healthy eating habits and the regular practice of physical exercises.
Highlights
Phenylketonuria (PKU) is a genetic disease, characterized by the total or partial deficiency of the hepatic enzyme phenylalanine hydroxylase, which is responsible for the hydroxylation of phenylalanine (PHE) in tyrosine and results in the accumulation of PHE in the body.[1,2] PKU is characterized as a rare disease, with an incidence in Brazil of approximately one in 16,300 to one in 34,500 live births.[3]Treatment for the disorder should be instituted early, following a neonatal screening confirming the diagnosis
A systematic review of observational studies was conducted based on the following question: “Do children and adolescents with PKU have a higher occurrence of overweight compared to healthy children and adolescents?” The question was formulated through the PECO strategy, in which each letter of the acronym represents an element of the leading
In order to perform a bibliographic search with a diversity of studies and scientific bases, the following databases were selected for the collection of articles: the Scientific Electronic Library Online (SciELO), the Medline Publisher (PubMed) and the Virtual Health Library (VHL)
Summary
Phenylketonuria (PKU) is a genetic disease, characterized by the total or partial deficiency of the hepatic enzyme phenylalanine hydroxylase, which is responsible for the hydroxylation of phenylalanine (PHE) in tyrosine and results in the accumulation of PHE in the body.[1,2] PKU is characterized as a rare disease, with an incidence in Brazil of approximately one in 16,300 to one in 34,500 live births.[3]. Treatment for the disorder should be instituted early, following a neonatal screening confirming the diagnosis This is based primarily on the implementation of a restricted diet in foods with high levels of PHE, such as dairy products and all types of meat, fish and eggs.[4,5,6] The main objectives of the dietary therapy employed are: to maintain normal growth and development, and to maintain PHE plasma levels within limits to prevent mental retardation, promote the maintenance of plasma tyrosine levels and provide anabolism.[7].
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
