Authors' recommendations: Phenylketonuria (PKU) is an inherited disorder of protein metabolism that causes a problem with the phenylalanine hydroxylase enzyme. This enzyme is responsible for breaking down the amino acid phenylalanine, a chemical in protein from food, so that in PKU the amount of phenylalanine in the blood increases. Hyperphenylalaninaemia is when the levels of phenylalanine in the blood are too high. If untreated, hyperphenylalaninaemia can cause damage to the brain which can cause severe mental disability, seizures and tremors. In addition, it may lead to psychological, social and behavioural problems, and lead to depression, anxiety, phobias and low self-esteem. Pegvaliase is a new drug which is injected into the skin daily to treat hyperphenylalaninaemia in adult patients with PKU. PKU is currently treated by adopting a protein restricted diet and taking dietary supplements, pegvaliase could potentially allow patients to relax these dietary restrictions.

Project Status: Completed

Year Published: 2016

URL for published report: http://www.hsric.nihr.ac.uk/topics/pegvaliase-for-the-treatment-of-hyperphenylalaninaemia-in-adults-with-phenylketonuria-first-line/

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: England, United Kingdom

Organisation Name: NIHR Horizon Scanning Centre

Contact Address: The NIHR Horizon Scanning Centre, Department of Public Health, Epidemiology, and Biostatistics, School of Health and Population Sciences, University of Birmingham, 90 Vincent Drive, Edgbaston, Birmingham, B15 2SP. United Kingdom. Tel: +44 121 414 7831, Fax: +44 121 2269

Contact Name: c.packer@bham.ac.uk

Contact Email: c.packer@bham.ac.uk

Copyright: NIHR Horizon Scanning Research&Intelligence Centre (NIHR HSRIC)