An Interdisciplinary Alliance
The PKU.CAT project has researched how phenylketonuria affects both the body and mind throughout life, with an interdisciplinary approach that has improved treatments and quality of life.
The consortium continues its collaboration beyond the funding received from La Marató de TV3, establishing itself as a long-term interdisciplinary alliance to provide new solutions for the needs of PKU patients.
Brain connectivity
Research unveils how phenylketonuria affects brain connectivity, particularly in areas linked to memory and executive function. Using advanced neuroimaging techniques, researchers have identified patterns that open new avenues for improving neurological health in PKU patients.
Metabolism, nutrition, & cardiovascular health
Studies conducted by the PKU.CAT consortium show the relationship between metabolic control and cardiovascular risk factors. Insulin resistance, oxidative stress, and lipid profile alterations are key areas in understanding and reducing the disease’s impact on the heart and blood vessels.
Mitochondria and oxidative stress
Mitochondria, the “powerhouses” of cells, can be affected in phenylketonuria, generating oxidative stress and tissue damage. Controlling this process is key to reducing complications and improving the quality of life for PKU patients.
Microbiota, metabolomics and treatment
The analysis of gut microbiota and metabolomics has revealed that the composition of gut microorganisms and metabolic profiles can influence phenylalanine tolerance and the effectiveness of dietary interventions. These findings reinforce the potential to personalize treatments.
RESEARCH GROUPS
The teams driving progress
The PKU.cat consortium integrates several research groups working together to improve the understanding and treatment of phenylketonuria (PKU).
Inherited Metabolic Diseases and Muscular Disorders (IDIBAPS)
Led by Dr Glòria Garrabou, this group focuses on identifying new genetic and molecular alterations associated with hereditary metabolic and muscle diseases. They use advanced multi-omic techniques to characterize the etiology of these disorders, identify biomarkers, and develop potential therapeutic targets. Additionally, they implement new disease models to develop therapies that enhance patients’ quality of life.
Metabolomics and Biochemical Genetics (Sant Joan de Déu Research Institute)
Led by Dr Rafael Artuch, this group conducts patient-oriented research, focusing on clinical and biochemical phenotypic aspects, the molecular basis of hereditary metabolic diseases, and therapeutic strategies. In collaboration with other basic research groups, they investigate the pathophysiological basis of these diseases to develop new diagnostic and therapeutic strategies.
Neuropsychology (IDIBAPS)
Led by Dr. Carme Junqué, this group studies brain networks involved in cognitive and behavioral deficits associated with aging and neurodegenerative diseases. They use multimodal magnetic resonance imaging and transcranial magnetic and electrical stimulation techniques to understand brain mechanisms and their response to pharmacological and behavioral interventions.
SCIENTIFIC OUTPUT
Publications by the PKU.cat Consortium
The research conducted by the PKU.CAT Consortium is reflected in high-impact journal publications.
Dolores Garcia-Arenas, Aida Ormazabal, Paula Isern, Blanca Barrau-Martinez, Arnau Gonzalez-Rodriguez, Alba Tor-Roca, Rafael Llorach, Jaume Campistol-Plana, Mireia Urpi-Sarda; Consortium PKU.cat..
Comparative Analysis of Dietary Patterns in Children With Phenylketonuria Phenotypes and Controls: Implications for Nutritional Status.
J Inherit Metab Dis. 2026 May;49(3):e70196. doi: 10.1002/jimd.70196.
This study demonstrated that children with phenylketonuria, particularly those following a low-protein diet, consume more carbohydrates and sugars than healthy controls. This dietary pattern was associated with differences in nutritional and metabolic profiles, highlighting the importance of careful dietary monitoring.
Arnau Gonzàlez-Rodriguez, Mireia Urpi-Sarda, Blanca Barrau-Martinez, Francesc M Campins-Machado, Hadia Bakkali-Aissaoui, Adriana Pané, Pedro J Moreno, Emilio Ortega, Judit Garcia-Villoria, Aida Ormazabal, Dolores Garcia-Arenas, Carme Junqué, Gloria Garrabou, Rafael Llorach; Consortium PKU.cat.
Metabolomic profiling in phenylketonuria: a systematic review of human studies.
Metabolomics. 2026 Mar 7;22(2):39. doi: 10.1007/s11306-026-02416-6.
This systematic review showed that phenylketonuria is associated with metabolic alterations that extend beyond phenylalanine accumulation, affecting multiple biochemical pathways. The findings highlight the potential of metabolomics to improve disease monitoring and enhance the understanding of the disease..
Blanca Barrau-Martinez, Arnau Gonzalez-Rodriguez, Dolores Garcia-Arenas, Jaume Campistol, Silvia Meavilla, Regina Roca-Vives, Olga Jáuregui, Aida Ormazabal, Rafael Llorach, Mireia Urpi-Sarda; Consortium PKU.cat..
Nutritional and metabolic signatures in pediatric phenylketonuria and hyperphenylalaninemia: Insights from untargeted urinary metabolomics.
J Nutr Biochem. 2026 Jul:153:110307. doi: 10.1016/j.jnutbio.2026.110307.
This study demonstrated that children with phenylketonuria and hyperphenylalaninemia exhibit distinct urinary metabolic profiles, influenced by both the disease and nutritional treatment. Alterations were identified in several metabolic pathways, including phenylalanine metabolism, the metabolism of other amino acids, and compounds derived from the gut microbiota. The results suggest that urinary metabolomics could help monitor metabolic status and personalize the nutritional management of patients from the earliest stages of life.
Arnau Gonzàlez-Rodriguez, Blanca Barrau-Martinez, Adriana Pané, Rosa Maria López Galera, Ester Tobias, Cristina Montserrat-Carbonell, Mariona Guitart-Mampel, Olga Jáuregui, Regina Roca-Vives, Judit Garcia-Villoria, Jose Cesar Milisenda, Ana Matas-Garcia, Maria de Talló Forga Visa, Pedro Juan Moreno Lozano, Glòria Garrabou, Mireia Urpi-Sarda, Rafael Llorach; Consortium PKU.cat.
Untargeted Metabolic Study for Urinary Characterization of Adult Patients with Phenylketonuria.
Int J Mol Sci. 2025 Dec 6;26(24):11808. doi: 10.3390/ijms262411808.
This study identified metabolic alterations in the urine of adults with phenylketonuria using untargeted metabolomics. In addition to changes related to phenylalanine metabolism, alterations were detected across multiple metabolic pathways. The findings suggest novel potential biomarkers and indicate that this disease has a broader metabolic impact than previously recognized.
Jèssica Pardo, Clara Capdevila-Lacasa, Bàbara Segura, Adriana Pané, Pedro J. Moreno, Glòria Garrabou, Josep M. Grau, Carme Junqué; Consortium PKU.cat..
Diffusivity alterations related to cognitive performance and phenylalanine levels in early-treated adults with phenylketonuria.
J Neurodev Disord. 2025 Jul 2; 17(1):37. doi: 10.1186/s11689-025-09622-8.
This study demonstrated that adults with early-treated phenylketonuria exhibit cerebral white matter abnormalities detectable by magnetic resonance imaging. Furthermore, these abnormalities were associated with higher phenylalanine levels and poorer cognitive performance, highlighting the importance of maintaining good metabolic control throughout life.
Pané A, Carrasco-Serrano M, Milad C, Leyes P, Moreno-Lozano PJ, Ventura R, Milisenda JC, García-García FJ, Garrabou G, García-Villoria J, López-Galera RM, Ribes A, Grau-Junyent JM, Forga-Visa MT, Montserrat-Carbonell C, On Behalf Of Consortium PKU.cat.
Preparing Enteral Formulas for Adult Patients with Phenylketonuria: A Minor Necessity but Major Challenge-A Case Report.
J Clin Med. 2023 Dec 1;12(23):7452. doi: 10.3390/jcm12237452.
This article describes the first documented case of customized enteral nutrition for an adult with phenylketonuria and severe dysphagia. The study highlights the challenges of combining phenylalanine-free protein substitutes with standard enteral feeding formulas, which can cause feeding tube obstructions and digestive issues. The proposed solution consists of separate administration of these components.
This experience provides valuable information for developing specific protocols to manage PKU patients requiring enteral nutrition.
Pardo J, Capdevila-Lacasa C, Segura B, Pané A, Montserrat C, de Talló Forga-Visa M, Moreno PJ, Garrabou G, Grau-Junyent JM, Junqué C; Consortium PKU.cat.
Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.
J Neurodev Disord. 2024 Jun 21;16(1):33. doi: 10.1186/s11689-024-09553-w.
This study examines how phenylketonuria affects brain structure in early-treated adults. Using magnetic resonance imaging, significant reductions in the volume of subcortical regions such as the pallidum, amygdala, and hippocampus, as well as in cerebral white matter, were identified. Additionally, elevated blood phenylalanine levels negatively correlated with the volume of the pallidum and brainstem, suggesting these structures’ vulnerability to phenylalanine toxicity.
The findings underscore the importance of maintaining strict metabolic control to prevent neurological alterations in these patients.
Articles under development:
Arnau Gonzalez-Rodriguez, Mireia Urpi-Sarda, Blanca Barrau-Martinez, Francesc M Campins-Machado, Hadia Bakkali-Aissaoui, Adriana Pané, Pedro J Moreno, Emilio Ortega, Judit Garcia-Villoria, Aida Ormazabal, Dolores Garcia-Arenas, Carme Junqué, Gloria Garrabou, Rafael Llorach and Consortium PKU.cat.
Blood specimens and urine metabolomic fingerprint of adults and children with phenylketonuria: A systematic review.
Under review at J Inherited Med Dis
CONFERENCE PRESENCE
Presentations by the PKU.cat Consortium
The PKU.CAT Consortium has a strong presence in major conferences.
1
COGNITIVE PERFORMANCE, BRAIN VOLUMETRY AND BLOOD PHENYLALANINE LEVELS IN ADULT PHENYLKETONURIC PATIENTS
Poster. Annual Mid-Year Barcelona Meeting of the International Neuropsychological Society.
Barcelona (Spain), 6-8 july 2022.
2
CARACTERIZACIÓN DEL PERFIL CARDIOMETABÓLICO EN UNA COHORTE ADULTA DE PACIENTES CON FENILCETONURIA CLÁSICA (PKU)
Poster, Sociedad Española de Endocrinología y Nutrición (SEEN).
Las Palmas de Gran Canaria (Spain), 26-28 october 2022.
3
CARACTERIZACIÓN DEL PERFIL CARDIOMETABÓLICO Y NEUROPSICOLÓGICO – ESTRUCTURAL CEREBRAL EN UNA COHORTE ADULTA DE PACIENTES CON FENILCETONURIA CLÀSICA
Oral Communication. 43º Congreso Nacional de la Sociedad Española de Medicina Interna (SEMI).
Gijón (Spain), 23-25 november 2022.
4
COGNITIVE IMPAIRMENT ASSOCIATED WITH WHITE MATTER VOLUME REDUCTION AND PHENYLALANINE LEVELS IN ADULT PHENYLKETONURIC PATIENTS
Poster. International Multi-Brain Barcelona Congress.
Barcelona (Spain), 9-10 november 2022.
5
ANÁLISIS DEL IMPACTO CARDIOMETABÓLICO DE LAS FÓRMULAS ADAPTADAS EN UNA COHORTE ADULTA DE PACIENTES CON FENILCETONÚRIA CLÁSICA
Oral presentation nominated among the top 6 oral presentations. 38º Congreso Nacional de la Sociedad Española de Endocrinología y Nutrición (SENPE).
València (Spain), 24-26 may 2023.
6
TARGETING MITOCHONDRIA THROUGH OXIDATIVE STATUS AND GDF15 IN DIFFERENT COHORTS WITH PHENYLKETONURIA
Poster, XXIX Jornada de Biologia Molecular de la Societat Catalana de Biologia.
Barcelona (Spain), 14 september 2023.
7
METABOLÓMICA Y FENILCETONURIA: ESTUDIO DEL METABOLOMA URINARIO EN PACIENTES PEDIÁTRICOS CON HIPERFENILALANINEMIA Y FENILCETONURIA
64º Congreso Nacional de la SEEN.
Barcelona (Spain), 18-20 october 2023.
8
COGNITIVE PERFORMANCE AND VOLUMETRIC BRAIN REDUCTIONS IN ADULT PHENYLKETONURIA PATIENTS AND ITS RELATIONSHIP WITH BLOOD PHENYLALANINE LEVELS
Oral Presentation. 37th E.S.PKU Conference.
Birmingham (United Kingdom), 19-22 october 2023.
9
ESTADO NUTRICIONAL EN UNA POBLACIÓN PEDIÁTRICA PKU
Poster. XV Congreso Nacional de Errores Congénitos del Metabolismo (AECOM).
Madrid (Spain), 25-27 octuber 2023.
10
VOLUMETRIC BRAIN REDUCTIONS IN ADULT PHENYLKETONURIA PATIENTS AND ITS RELATIONSHIP WITH BLOOD PHENYLALANINE LEVELS
VI PhD Workshop del Institute of Neurosciences of the University of Barcelona.
Barcelona (Spain), november 2023.
11
URINARY METABOLOMIC STUDY IN PEDIATRIC PATIENTS WITH HYPERPHENYLALANINEMIA AND PHENYLKETONURIA
Oral Presentation. 1st International Conference on Food Safety in the Mediterranean Region.
Kenitra, Marruecos, 28-29 november 2023.
12
OXIDATIVE STRESS AND MITOCHONDRIAL DYSFUNCTION IN PHENYLKETONURIA: IMPACT OF EARLY TREATMENT
Oral Presentation. XVII Reunión Anual CIBERER.
El Escorial (Spain), 20-22 march 2024.
13
URINARY METABOLOME STUDY IN ADULT PATIENTS WITH PHENYLKETONURIA
Poster, XIV Congreso Internacional Dieta Mediterránea.
Barcelona (Spain), 20-21 march 2024.
14
VALORACIÓN DEL PATRÓN DE INGESTA EN UNA COHORTE ADULTA DE PACIENTES CON PKU CLÁSICA E IMPACTO EN EL PERFIL CARDIOMETABÓLICO
Poster, SENPE 2024.
Palma de Mallorca (Spain), 15-17 may 2024.
15
APROXIMACIÓN A LA DIETA MEDITERRÁNEA EN UNA COHORTE ADULTA CON FENILCETONURIA CLÁSICA
SENPE 2024.
Palma de Mallorca (Spain), 15-17 may 2024.
16
ALTERACIONES DE LA DIFUSIVIDAD DEL CUERPO CALLOSO RELACIONADAS CON RENDIMIENTO NEUROPSICOLÓGICO EN PACIENTES CON FENILCETONURIA TRATADA TEMPRANAMENTE
Poster, FANPSE, 2024.
17
EARLY TREATMENTS IMPACT IN PHENYLKETONURIA: OXIDATIVE STRESS AND MITOCHONDRIAL DYSFUNCTION DETERMINATION
Oral Presentation. 58th Annual Scientific Meeting of the European Society for Clinical Investigation (ESCI).
Barcelona (Spain), 5-7 june 2024.
18
DIFFUSIVITY ALTERATIONS IN FA AND MD RELATED TO NEUROPSYCHOLOGICAL PERFORMANCE IN EARLY-TREATED ADULTS WITH PKU
Poster. Global Neuropsychology Congress.
Porto (Portugal), 3-5 july 2024.
19
GENDER-SPECIFIC ANALYSIS OF BODY COMPOSITION AND INSULIN RESISTANCE IN ADULTS WITH CLASSICAL PKU
Poster, SSIEM 2024.
Porto (Portugal), 3-6 seoçptember 2024.
20
SEXUAL HEALTH IN ADULT MALES WITH PHENYLKETONURIA
Poster, SSIEM 2024.
Porto (Portugal), 3-6 september 2024.
21
PKU MANAGEMENT EXTENDS BEYOND DIET: FACING EXERCISE AS A NEW CHALLENGE
Pòster, SSIEM 2024.
Porto (Portugal), 3-6 september 2024.
22
LA SALUD SEXUAL EN LOS HOMBRES ADULTOS CON FENILCETONÚRIA (PKU)
Poster, SEEN 2024.
Oviedo (Spain), 16-18 october 2024.
23
EVALUACIÓN DE LA SALUD SEXUAL EN UNA COHORTE ADULTA DE MUJERES CON FENILCETONÚRIA CLÁSICA (PKU)
Poster, SEEN 2024.
Oviedo (Spain), 16-18 octuber 2024.
24
IMPACT OF EARLY TREATMENTS IN PHENYLKETONURIA: TARGETING OXIDATIVE STRESS AND MITOCHONDRIAL DYSFUNCTION
Poster, MetNet Internacional Congress.
Barcelona (Spain), 24-25 octuber 2024.