Future treatment strategies in phenylketonuria

Molecular Genetics and Metabolism
Francjan J van Spronsen, G M Enns

Abstract

Phenylketonuria (PKU) was the first inherited metabolic disease in which treatment was found to prevent clinical features of the disorder; dietary management was established almost 60 years ago. The institution of a low-phenylalanine (Phe) diet in the first few weeks of life was made possible by Guthrie neonatal screening, which further increased effectiveness of therapy. Indeed, neonatal diagnosis of PKU followed by institution of a low-Phe diet has been a remarkable success in preventing the devastating brain damage associated with untreated PKU. Nevertheless, significant difficulties exist in caring for PKU patients, including problems with adhering to the prescribed dietary regimen and the presence of neurocognitive deficits despite therapy. During the past few years, several ideas for new treatment strategies have emerged. This review aims to address these treatment strategies based on theoretical considerations of the biochemistry and pathogenesis of PKU. Recent times have seen the introduction of a wide array of novel treatments currently in clinical use, including more palatable medical foods, glycomacropeptide, large neutral amino acids, and tetrahydrobiopterin. Human trials are underway using an enzymatic therapeutic ...Continue Reading

Citations

Feb 25, 2011·Journal of Inherited Metabolic Disease·Francjan J van Spronsen
Dec 18, 2013·Orphanet Journal of Rare Diseases·Tobias S HagedornRosalia Pasqual Saludes
Aug 1, 2012·Drug Delivery and Translational Research·Jaspreet Singh KochharLifeng Kang
Nov 26, 2011·Journal of Inherited Metabolic Disease·Júlio César Rocha, Maria João Martins
Sep 15, 2012·Journal of Inherited Metabolic Disease·Kara R VogelK Michael Gibson
Aug 30, 2011·Molecular Genetics and Metabolism·Isabel RiveraIsabel Tavares de Almeida
Aug 9, 2011·Journal of Human Nutrition and Dietetics : the Official Journal of the British Dietetic Association·A MacDonaldJ Wildgoose
Aug 4, 2010·Molecular Genetics and Metabolism·G M EnnsE Jurecki
Jan 4, 2012·Molecular Genetics and Metabolism·Clara D M van Karnebeek, Sylvia Stockler
Jun 4, 2013·Clinical Biochemistry·Hubertus C M T PrinsenNanda M Verhoeven-Duif
Jan 17, 2012·Human Molecular Genetics·Sandra Santos-SierraFlorian B Lagler
Aug 20, 2010·Nature Reviews. Endocrinology·Francjan J van Spronsen
Jan 12, 2013·Jornal Da Sociedade Brasileira De Fonoaudiologia·Dionísia Aparecida Cusin LamônicaMariana Germano Gejão
May 10, 2013·Metabolic Brain Disease·Priscila Nicolao MazzolaCarlos Severo Dutra-Filho
Nov 30, 2018·Physiological Research·I Zofkova, P Nemcikova

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