Ontology highlight
ABSTRACT:
SUBMITTER: Koppes EA
PROVIDER: S-EPMC7605535 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Koppes Erik A EA Redel Bethany K BK Johnson Marie A MA Skvorak Kristen J KJ Ghaloul-Gonzalez Lina L Yates Megan E ME Lewis Dale W DW Gollin Susanne M SM Wu Yijen L YL Christ Shawn E SE Yerle Martine M Leshinski Angela A Spate Lee D LD Benne Joshua A JA Murphy Stephanie L SL Samuel Melissa S MS Walters Eric M EM Hansen Sarah A SA Wells Kevin D KD Lichter-Konecki Uta U Wagner Robert A RA Newsome Joseph T JT Dobrowolski Steven F SF Vockley Jerry J Prather Randall S RS Nicholls Robert D RD
JCI insight 20201015 20
Phenylalanine hydroxylase-deficient (PAH-deficient) phenylketonuria (PKU) results in systemic hyperphenylalaninemia, leading to neurotoxicity with severe developmental disabilities. Dietary phenylalanine (Phe) restriction prevents the most deleterious effects of hyperphenylalaninemia, but adherence to diet is poor in adult and adolescent patients, resulting in characteristic neurobehavioral phenotypes. Thus, an urgent need exists for new treatments. Additionally, rodent models of PKU do not adeq ...[more]