Metabolic and mitochondrial medicine

Where we are

SJD Barcelona Children’s Hospital

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Our group conducts patient-oriented research, focusing primarily on clinical and biochemical phenotypes, on the molecular basis of inherited metabolic diseases (IMDs) and on therapeutic aspects. We also investigate the pathophysiology of some of these diseases in collaboration with other basic research groups.

Our group has been a member of the Centre for Biomedical Network Research on Rare Diseases (CIBERER) since 2007 and in 2000 we were recognised as a consolidated research group by AGAUR (Agency for Management of University and Research Grants) (Government of Catalonia, 2017 SGR 1308).

Research lines

  1. Phenylketonuria and other IMDs caused by simple molecules, focusing primarily on clinical, diagnostic and therapeutic aspects (Principal investigator: J. Campistol).
  2. Mitochondrial oxidative phosphorylation disorders and coenzyme Q10 deficiency with the aim of identifying new biomarkers and elucidating the molecular basis of mitochondrial diseases (Principal investigator: R. Artuch).
  3. The development and validation of biomarkers for the study of IMDs using targeted metabolomic strategies (Principal investigator: R. Artuch). This interdisciplinary research line offers support to other groups in paediatric neuroscience as well as other external groups.
  4. Congenital disorders of glycosylation (CDG), investigating phenotypes and therapeutic approaches in CDG syndromes (Principal investigator: M. Serrano). 

Scientific objectives

  1. To develop and validate metabolomic biomarkers for IMDs, both for the diagnosis and monitoring of the disease, as well as developing biosensors.
  2. To describe new clinical and biochemical phenotypes in IMDs and functionally validate new genotypes, mainly in the mitochondrial disease group.
  3. To conduct follow-up studies in patients with IMDs treated with different therapies.

Area/Field of expertise

The research carried out by our group forms part of the overall research into the clinical, biochemical, molecular and therapeutic aspects of IMDs. Our main focus of inquiry is the study of disorders of intermediary metabolism (simple molecules; amino acids and organic acids), defects in mitochondrial energy metabolism and CDG.

The group includes clinicians, biologists, chemists, molecular biologists and laboratory technicians who offer a holistic approach of the questions posed by IMD research. In addition to applying state-of-the-art clinical research methodologies (neurophysiology and imaging), our laboratory has extensive experience in targeted metabolomic studies in patients with IMDs. We have, for example, biochemically characterised 4,500 cerebrospinal fluid specimens from over 10 different countries over the past 15 years, consolidating our position as an international reference centre for the diagnosis of inherited neurometabolic diseases.

We have made remarkable progress in updating our facilities over the past two years with the acquisition of cutting-edge technology for metabolomic analysis (UHPLC-MS/MS and gas chromatography-mass spectrometry), complemented by more specific (HPLC with electrochemical and fluorescence detection, capillary electrophoresis and ICP-MS) and next-generation genomic procedures. We are therefore in a position to offer in-depth characterisation of many metabolites following the most rigorous quality controls as a duly certified ISO15189 laboratory (from the Spanish National Accreditation Body, ENAC). This prompted us to reconsider our laboratory work and develop a new conceptual model in which we apply the same strictly controlled techniques for IMD diagnosis/research in humans to the metabolomic phenotyping of cell and animal models.

Group members

Last Publications

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Projects

Project name:
Stroke-like episodes en CDG: propuesta multicéntrica internacional para descubrir el verdadero fenotipo, mejorar el diagnóstico y tratamiento y entender los mecanismos subyacentes.
Leader
Mercedes Serrano Gimaré
Funding entities:
Instituto de Salud Carlos III (ISCIII), Fundació Privada per a la Recerca i la Docència Sant Joan de Déu - FSJD
Code
PI21/00068
Starting - finishing date:
2022 - 2024
Project name:
Schaaf-yang syndrome, a patient-centered project to improve diagnosis and management, to develop new tools for monitoring and to search for a therapeutic target
Leader
Mercedes Serrano Gimaré
Funding entities:
Hospital Sant Joan de Déu - Esplugues HSJD
Code
BR202001
Starting - finishing date:
2021 - 2024
Project name:
PHENYLKETONURIA: from Childhood to Adults througt Brain Functional Connectomics, Cardiovascular Changes, Metabolomic and MIcrobiota Characteristics
Leader
Aida Ormazabal Herrero
Funding entities:
Fundació La Marató de TV3
Code
18/C/2020
Starting - finishing date:
2021 - 2024
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Theses

  • Combining exome sequencing and functional studies to identify causal genes of ultra-rare neurodevelopmental disorders
    Author
    Castilla Vallmanya, Laura
    Institution
    UNIVERSIDAD DE BARCELONA
    04/11/2021
  • Investigació en biomarcadors de l'estat de la dopamina i la serotonina en pacients neuropediàtrics
    Author
    Batllori Tragant, Marta
    Institution
    UNIVERSIDAD DE BARCELONA
    12/04/2021
  • Avances en el estudio de la fenilcetonuria
    Author
    González, María Julieta
    Institution
    UNIVERSIDAD DE BARCELONA
    25/02/2021
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