Podcast & Infographic

Current situation of newborn screening for PKU: Perspectives from different parts of the world

Launch 16 June 2025

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PODCASTS & INFOGRAPHICS

Ida Schwartz

Ida Schwartz

Brazil
Podcast
Infographic
Urh Groselj

Urh Groselj

Slovenia
Podcast
Infographic
Serap Sivri

Serap Sivri

Turkey
Podcast
Infographic

Overview

Phenylketonuria (PKU), an autosomal recessive disorder, is an inborn error of metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene (Trampuz, 2025). Disruption of phenylalanine metabolism results in especially high phenylalanine concentrations, which cause brain dysfunction. If untreated, this brain dysfunction results in severe intellectual disability, epilepsy and behavioural problems (van Spronsen, 2021). Newborn screening is key to early diagnosis, but is not available globally. Discrepancies in newborn screening programs and their challenges is the subject of the first podcast of this PKU learning journey and will explore the issues in Brazil, Eastern Europe and Turkey. Successful case finding by newborn screening allows treatment to start early and to continue, which allows patients to develop with intelligence within normal limits, though often with some suboptimal neurocognitive function (van Spronsen, 2021). Treatment consists of dietary restriction of phenylalanine and has been successful, although outcomes are still sometimes suboptimal and patients can find keeping to the treatment difficult.

Learning Objectives

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

  • • Outline best practice for newborn screening for PKU

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.

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Podcast & Infographic

Launch 16 June 2025

Faculty

Ida Vanessa Doederlein Schwartz

Ida Vanessa Doederlein Schwartz

Full Professor
Department of Genetics
Universidade Federal do Rio Grande do Sul (UFRGS)
Porto Alegre, Brazil
Biography
Urh Groselj

Urh Groselj

Associate Professor of Pediatrics
UMC - University Children's Hospital Ljubljana
and University of Ljubljana
Faculty of Medicine
Ljubljana, Slovenia
Biography
Serap Sivri

Serap Sivri

Professor of Paediatrics
Hacettepe University Faculty of Medicine
Department of Pediatrics
Section of Metabolism
Director of Hacettepe University
İhsan Doğramacı Children’s Hospital
Ankara, Turkey
Biography

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FUNDING

· 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.

· Ida V. Doederlein Schwartz ·

Ida Vanessa Doederlein Schwartz is a CNPq 1B researcher, medical professional, scientist. She holds a degree in Medicine from Universidade Federal do Rio Grande do Sul (UFRGS – 1994). Prof. Schwartz is a full professor in the Department of Genetics at UFRGS, a professor in the Postgraduate Programs in Genetics and Molecular Biology, and Medical Sciences at the Faculty of Medicine of UFRGS. She is also the leader of the research group “Health Technology Assessment for Clinical Genetics” and the coordinator of the National Institute of Rare Diseases – InRaras. Currently, she coordinates the outpatient clinics for inborn errors of metabolism at the Medical Genetics Service of Hospital de Clínicas de Porto Alegre (HCPA), which she led as head from 2020 to 2024. In 2007, she received the L’ORÉAL – UNESCO – Brazilian Academy of Sciences Grant Program for Women in Science Award. She has published over 200 indexed articles, with an H-index of 37.

· Urh Groselj ·

Urh Grošelj graduated (2007) and received his PhD (2012) from the Faculty of Medicine, University of Ljubljana, and his MA (2008, summa cum laude) from the Faculty of Medicine, University of Leuven, Belgium. Since 2014, he has been a specialist paediatrician at the Department of Endocrinology, Diabetes and Metabolism, University Children’s Hospital – UMC Ljubljana. Since 2022, he has been an Associate Professor of Paediatrics and Assistant Professor of Medical Ethics, and a member of both Departments at the Faculty of Medicine of the University of Ljubljana. He was a Fulbright Scholar, and a Visiting Scholar (Asst. Prof.) at School of Medicine, Stanford University, California, USA. Since 2013, he has been a member of the National Medical Ethics Committee of Slovenia. Since 2024, he has been the Vice President of the Slovenian Heart Foundation. His clinical and research interests are in rare diseases, especially metabolic diseases, familial hypercholesterolaemia, rare dyslipidaemias, newborn and paediatric screening, clinical genomics, and medical ethics. Prof. Grošelj manages the clinical part of the newborn screening programme (including the planned expansion of the programme in 2024), as well as the national programme of universal screening for familial hypercholesterolaemia, including the programme of modern NGS diagnostics for dyslipidaemia at the UMC Ljubljana. He coordinated the preparation of the national registry of rare non-malignant diseases of the Republic of Slovenia. He is a member of the scientific committee of FH Europe, a member of EndoERN and from 2024 a lead representative of MetabERN for Slovenia.

· Serap Sivri ·

Serap Sivri is Professor of Paediatrics in the Division of Metabolism in the Department of Paediatrics, and Chief Physician of İhsan Doğramacı Children’s Hospital at Hacettepe University, Ankara, Turkey. She is responsible for treatment of inherited metabolic disorders at both the in-patient and out-patient clinics. Between 1999 and 2000, Professor Sivri spent a year at The John F Kennedy Institute in Denmark, one of the most well-known centres in the metabolic field, where she participated in various projects. Professor Sivri has been involved in many national and international projects on mucopolysaccharidoses (MPS), and several Fellows have made their residency thesis on these topics under her supervision. Her major interests are in the diagnosis and treatment of inherited metabolic disorders (IMD), mainly PKU, organic acidaemias and lysosomal storage diseases. Professor Sivri has been a part of many national and international projects, and researches on both nutrition and metabolism. She is an expert in IEMs and their treatment, and is an author of more than 50 papers in peer-reviewed international journals.

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