Society guideline links: Phenylketonuria

Introduction — This topic includes links to society and government-sponsored guidelines from selected countries and regions around the world. We will update these links periodically; newer versions of some guidelines may be available on each society's website. Some societies may require users to log in to access their guidelines.

The recommendations in the following guidelines may vary from those that appear in UpToDate topic reviews. Readers who are looking for UpToDate topic reviews should use the UpToDate search box to find the relevant content.

Links to related guidelines are provided separately. (See "Society guideline links: Inborn errors of metabolism".)

United States

●American College of Medical Genetics and Genomics (ACMG): Phenylalanine hydroxylase deficiency – Diagnosis and management guideline (2014)

●American Academy of Pediatrics (AAP): Policy statement on maternal phenylketonuria (2008, reaffirmed 2013)

●ACMG: Adult genetic disease ACT sheet – Adult phenylketonuria (PKU) (2012)

●ACMG: Newborn screening ACT sheet – [Increased phenylalanine] Phenylketonuria (PKU) (2012)

●ACMG: Algorithm – Phenylalanine elevated (2009)

Europe

●The complete European guidelines on phenylketonuria – Diagnosis and treatment (2017)

United Kingdom

●British Inherited Metabolic Diseases Group (BIMDG): Phenylketonuria (PKU) clinical management guidelines (2015)