A healthcare network at your service
The PKU Consortium includes two hospitals that are members of the Clinical Expertise Units (UEC), Centers, Services, and Reference Units (CSUR), and the European Reference Network (ERN) for phenylketonuria:
Hospital Clínic de Barcelona
Comprehensive follow-up from the newborn heel prick test to dietary counseling in adulthood.
Hospital Sant Joan de Déu
Support for pediatric and young patients, along with their families, to learn how to properly manage and control the disease.
A comprehensive approach
Diagnosis and follow-up from birth
Phenylketonuria (PKU) is a hereditary metabolic disorder that requires specialized care throughout life. In Barcelona, both Hospital Sant Joan de Déu and Hospital Clínic offer dedicated services for the comprehensive management of this condition.
Hospital Clínic has an Adult Congenital Metabolic Disorders Unit, a multidisciplinary team providing specialized care for adult patients with hereditary metabolic diseases, including PKU. This unit ensures a smooth transition from pediatric to adult care.
The Biomedical Diagnostic Center (CDB) at Hospital Clínic is recognized as a European Reference Network (ERN) for congenital metabolic disorders. This European network facilitates access to high-quality care and coordinates research and training on rare diseases such as phenylketonuria.
Additionally, Hospital Clínic is an accredited Center, Service, and Reference Unit (CSUR) for its expertise in hereditary metabolic diseases. This accreditation guarantees the highest quality in medical and scientific care for patients. It also participates in the Neonatal Screening Program, known as the “heel prick test“, which enables the early detection of PKU in newborns.
The Internal Medicine Service at Hospital Clínic works closely with other specialties to ensure a comprehensive approach to the specific needs of patients with PKU and other rare diseases.
Contact: uecma@clinic.cat
Hospital Sant Joan de Déu is a national and European reference in the treatment of hereditary metabolic diseases such as PKU, thanks to its recognition as a Clinical Expertise Unit (UEC), Center, Service, and Reference Unit (CSUR), and a member of the European Reference Networks (ERN).
The hospital’s Congenital Metabolic Diseases Unit plays a key role in managing the early stages of PKU, offering early diagnosis, personalized dietary treatment, and psychological support for children and families from the moment of neonatal screening. This comprehensive care ensures optimal patient development in the early stages of life and establishes a solid foundation for long-term follow-up.
Hospital Sant Joan de Déu also collaborates with institutions and research networks to advance individualized treatments and improve patients’ quality of life.
Contact: Congenital Metabolic Diseases Unit
CLINICAL GUIDELINES
Guidelines of the PKU.cat Consortium
Updated clinical guidelines are essential to ensure optimal management of phenylketonuria. They provide evidence-based recommendations for the diagnosis, treatment, and personalized follow-up of patients.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ.
The complete European guidelines on phenylketonuria: diagnosis and treatment.
Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2
The European guidelines on phenylketonuria (PKU) aim to optimize and standardize the diagnosis and treatment of this hereditary metabolic disease caused by a deficiency of the enzyme phenylalanine hydroxylase. The guidelines have been developed by professionals from 10 European countries following rigorous methodologies, including a comprehensive review of scientific literature.
Among the key findings, 70 recommendations address aspects from early detection via neonatal screening to the impact of dietary and pharmacological treatment. The guidelines also highlight gaps in knowledge requiring further research, particularly in adult patient care. These guidelines provide a solid foundation to ensure a better quality of life for patients while reducing treatment inequalities across Europe.
