Results 1 to 10 of about 18,327 (286)

OVERWEIGHT AND ASSOCIATED FACTORS IN CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA: A SYSTEMATIC REVIEW [PDF]

Revista Paulista de Pediatria, 2020
Objective: 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 ...
Berilany dos Santos Sena, Maria Izabel Siqueira de Andrade, Ana Paula Ferreira da Silva, Keila Fernandes Dourado, Andressa Laís Ferreira Silva   +4 more
doaj   +6 more sources

Phenylketonuria

Nature Reviews Disease Primers, 2021
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems.
Francjan J, van Spronsen, Nenad, Blau, Cary, Harding, Alberto, Burlina, Nicola, Longo, Annet M, Bosch   +5 more
semanticscholar   +6 more sources

Brazilian Food Reference Guide for Phenylalanine Content: A Study Based on the Perception of PKU Patients and Health Providers [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2022
The mainstay of management of phenylketonuria (PKU) is restriction of dietary phenylalanine (Phe) intake. The present study sought to assess the perception and understanding of health care providers and lay users (patients/family members/caregivers ...
Bruna Bento dos Santos, Bibiana Mello de Oliveira, Vaneisse C. Lima Monteiro, Soraia Poloni, Tassia Tonon, Ida V. D. Schwartz   +5 more
doaj   +3 more sources

Genetic evaluation of hyperphenylalaninemia patients with tetrahydrobiopterin deficiency in Iranian population: Identification of four novel disease‐causing variants

Molecular Genetics & Genomic Medicine, 2022
Background Hyperphenylalaninemia (HPA) is the most common inborn error of amino acid metabolism worldwide. At least 2% of HPA cases are caused by a deficiency in tetrahydrobiopterin (BH4) metabolism.
Seyedeh Helia Sadat Fatemi, Peyman Eshraghi, Mahmoud Ghanei, Tayebeh Hamzehloei   +3 more
doaj   +1 more source

In vivo prime editing of a metabolic liver disease in mice

Science Translational Medicine, 2022
Prime editing is a highly versatile CRISPR-based genome editing technology that works without DNA double-strand break formation. Despite rapid technological advances, in vivo application for the treatment of genetic diseases remains challenging. Here, we
Désirée Böck, Tanja Rothgangl, L. Villiger, Lukas Schmidheini, M. Matsushita, Nicolas Mathis, Eleonora I. Ioannidi, Nicole Rimann, H. M. Grisch-Chan, Susanne Kreutzer, Zacharias Kontarakis, M. Kopf, B. Thöny, Gerald Schwank   +13 more
semanticscholar   +1 more source

METABOLIC CONTROL AND BODY COMPOSITION OF CHILDREN AND ADOLESCENTS WITH PHENYLKETONURIA

Revista Paulista de Pediatria, 2021
Objective: To characterize metabolic control and verify whether it has any relation with socioeconomic, demographic, and body composition variables in children and adolescents with phenylketonuria (PKU) diagnosed in the neonatal period.
Zeni Drubi Nogueira, Ney Boa-Sorte, Maria Efigênia de Queiroz Leite, Maria Betânia Pereira Toralles, Tatiana Amorim   +4 more
doaj   +2 more sources

Genetic etiology and clinical challenges of phenylketonuria

Human Genomics, 2022
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the ...
N. Elhawary, Imad A. AlJahdali, I. Abumansour, Ezzeldin N Elhawary, Nagwa Gaboon, Mohammed Dandini, A. Madkhali, Wafaa Alosaimi, Abdulmajeed A. Alzahrani, Fawziah H. Aljohani, Ehab M. Melibary, O. Kensara   +11 more
semanticscholar   +1 more source

Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010

International Journal of Neonatal Screening, 2021
Neonatal screening (NBS) was initiated in Europe during the 1960s with the screening for phenylketonuria. The panel of screened disorders (“conditions”) then gradually expanded, with a boost in the late 1990s with the introduction of tandem mass ...
J. Loeber, Dimitris Platis, R. Zetterström, S. Almashanu, F. Boemer, J. Bonham, P. Borde, Ian Brincat, D. Cheillan, E. Dekkers, Dobry Dimitrov, R. Fingerhut, L. Franzson, U. Grošelj, D. Hougaard, M. Knapkova, M. Kocova, V. Kotori, V. Kožich, A. Kremezna, Riikka Kurkijärvi, G. la Marca, R. Mikelsaar, T. Milenković, V. Mitkin, F. Moldovanu, U. Ceglarek, L. O’Grady, M. Ołtarzewski, R. Pettersen, D. Ramadža, D. Salimbayeva, M. Samardzic, Markhabo Shamsiddinova, J. Songailienė, I. Szatmári, N. Tabatadze, B. Tezel, A. Toromanović, Irina Tovmasyan, N. Usurelu, P. Vēvere, L. Vilarinho, M. Vogazianos, R. Yahyaoui, M. Zeyda, P. Schielen   +46 more
semanticscholar   +1 more source

Neuropsychological and quality of life outcomes in PKU patients: expert recommendations of assessment tools in Brazil

Arquivos de Neuro-Psiquiatria, 2023
Background Phenylketonuria (PKU) is an inborn error of metabolism caused by deficient activity of phenylalanine hydroxylase. In Brazil, the National Neonatal Screening Program enables early treatment of patients with PKU, which prevents them ...
Ida Vanessa Doederlein Schwartz, Andrea Amaro Quesada, Erlane Marques Ribeiro, Ana Maria Martins, Daniel Reda Fenga Vilela, André Pessoa   +5 more
doaj   +1 more source

Incidence of Neonatal Hyperphenylalaninemia Based on High-performance Liquid Chromatography Confirmatory Technique in Mazandaran Province, Northern Iran (2007–2015)

International Journal of Preventive Medicine, 2017
Background: Classic phenylketonuria (PKU) is a metabolic disorder. The purpose of this study was to assess epidemiological factors of PKU phenotypes in a neonatal screening program for Mazandaran, Iran.
Ali Abbaskhanian, Daniel Zamanfar, Parvaneh Afshar, Einollah Asadpoor, Hamed Rouhanizadeh, Ali Jafarnia, Mohammad Shokzadeh   +6 more
doaj   +1 more source