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The PKU section provides information and knowledge directed towards specialists in pediatrics and metabolic disorders, general practitioners, dieticians, and other healthcare professionals interested in PKU.


Suitable for dieticians, nutritionists, pediatricians, clinical biochemists, geneticists and basic scientists and other healthcare professionals working in all countries, and at all levels of experience

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PKU Academy

Slide kit
Anita Macdonald
This slide kit is recommended for those with background and basic knowledge of phenylketonuria (PKU) and its issues. To access further information on the condition, please see...
Slide kit
This manual will focus on the use of a pharmacological treatment option,sapropterin dihydrochloride, within the management of phenylketonuria (PKU) arising due to phenylalanine hydroxylase (PAH) deficiency.
Slide kit
Introducing sapropterin into the management of someone’s PKU is a somewhat complex and sometimes challenging process, where working closely with their healthcare team is essential to ensure the best possible outcome...

Expert perspectives

Topical viewpoints from the leading names in Phenylketonuria (PKU) management.
Nenad Blau

Division of Clinical Chemistry and Biochemistry
University Children's Hospital
Zürich, Switzerland

Ida Vanessa Doerdelein Schwartz

Medical Genetics Service, Hospital de clinicas de Porto Alegre

Michael Gibson

Professor of Clinical Pharmacology
Washington State University