Podcast & Infographic

How to understand adolescence in PKU – the teenage brain

Laurie E. Bernstein, USA

Launch 12 September 2025

Click to Listen to the Podcast

Download the infographic

Overview

Phenylketonuria is a rare inherited metabolic disorder that significantly impacts a child’s brain development if left untreated . Early detection and strict dietary management can largely prevent these devastating effects, allowing children with PKU to lead healthy and fulfilling lives. Adolescence is a critical period for individuals with PKU where the neurodevelopmental demands of the teenage brain intersect with the desire for independence. The adolescent brain is still undergoing extensive development, especially on the prefrontal cortex which is responsible for executive functions ( planning, impulse control, decision making working memory) and emotional regulation. The amygdala, which processes emotions, is more active during adolescence. The weaker prefrontal cortex struggles to regulate the strong emotional impulses generated by the amygdala. This imbalance is a key factor in the heightened emotionality and risk-taking often seen in teenagers. Navigating these challenges requires a comprehensive and individual approach that includes support, education, and appropriate empowerment for the adolescent to take gradual ownership of their health. The adolescent’s brains propensity for hot cognition ( peer influence, impulsivity etc.) can make sustainability to the PKU diet management particularly challenging. Cold cognition refers to processes that are relatively free from strong emotional influence, Hot and cold cognition are not mutually exclusive, they interact and influence each other. Parenting a child with PKU is a unique and lifelong journey that requires dedication, knowledge, and  a strong support system. The key is to manage the condition effectively while also nurturing the child’s overall well-being. While the low phenylalanine diet remains the cornerstone of care , the future of PKU treatment is looking very bright with significant advances beyond the  traditional strict dietary management.

Learning Objectives

After listening to this podcast, participants should be able to:

Target Audience

Specialists in paediatric and adult inherited metabolic disorders, dietitians, nutritionists, clinical biochemists and geneticists, basic scientists, psychologists, gynaecologists and obstetricians, nurses and all healthcare professionals helping those with PKU.

Language

The official language of this educational programme is English.

Podcast & Infographic

Launch 12 September 2025

Faculty

Laurie E. Bernstein

Laurie E. Bernstein

Professor Emerita in the Department of Pediatrics and
Past Director of the IMD Nutrition Clinic
Section of Clinical Genetics and Metabolism
University of Colorado School of Medicine, Denver
and Children’s Hospital Colorado
Aurora, Colorado

Save The Date

· Martin O. Savage ·

Martin Savage is Emeritus Professor of Paediatric Endocrinology at William Harvey Research Institute, Barts and the London School of Medicine & Dentistry, Queen Mary, University of London. He was head of the Paediatric Endocrine Unit at Barts and the London School of Medicine from 1982 to 2007. He has interests in growth disorders, specifically those with abnormalities in the GH-IGF-1 axis and in phenotype-genotype relationships of GH-IGF-1 axis defects, notably GH resistance. He published the first human case of an IGF-1 gene defect in the New England Journal of Medicine in 1996.  His other interests are Cushing’s syndrome and growth in chronic inflammatory diseases. He was General Secretary of the European Society for Paediatric Endocrinology (ESPE) from 1997 to 2004. He has lectured in 60 countries and has published 482 original articles, reviews, textbook chapters and books. In 2007, he was awarded the ESPE Andrea Prader Prize for contributions to paediatric endocrinology and in 2018 he received a Visionary Award from the American Human Growth Foundation. In 2022, he received a Research Excellence Award from the Dr Sulaiman Al Habib Medical Journal in Riyadh, and the British Society of Paediatric Endocrinology & Diabetes James M. Tanner Lifetime Achievement Award. He continues to lecture nationally and internationally.

· Laurie E. Bernstein ·

Laurie E. Bernstein, MS, RD, FAND, is a Professor Emerita in the Department of Pediatrics, and past Director of the IMD Nutrition Clinic, Section of Clinical Genetics and Metabolism at the University of Colorado School of Medicine, Denver, and Children’s Hospital Colorado in Aurora, Colorado. A Fellow of The Academy of Nutrition and Dietetics, Prof. Bernstein is also a five-time recipient of the ADA’s Creative Nutrition Education Award for her extensive contributions. She was presented the Children’s Choice Award for Innovation in 2000, and the Health and Science Communication Association’s Silver Award in 2004. In 2024 she was awarded the Phyllis Acosta Lifetime Achievement award by Genetic Metabolic Dietitians International. (GMDI). Prof. Bernstein also has a patent for low-protein bacon. She is a co-founder of Metabolic University, a training forum for registered dietitians, nurses, genetic counselors, and medical doctors and a founding member of GMDI. She is the co-author of Nutrition Management of Inherited Metabolic Diseases, Penny the Penguin Has PKU (English, Spanish and Norwegian), Setting Up Your Low Protein Kitchen, Max the Monkey has MCADD, Stepping Up Your Protein Intake and many educational modules for families with inborn errors of metabolism. She is a co-editor and author of the textbook Nutrition Management of Inherited Metabolic Diseases: Lessons from Metabolic University. 

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