Hospital Universitario Vall d’Hebron, Spain

Barcelona, SPAIN

Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network

Hospital Universitario Vall d’Hebron is a health care institution within the Catalan public health care system, one of the foremost health care complexes in Spain, with 1072 beds, a University and a Research Center. It’s a National Reference Center for most diseases and participates in more than 10 ERNs.

Vall d’Hebron University Hospital is one of the main training centres in the whole of Spain, accepting rotations of external residents, as well as offerings fixed support for the accreditation of some specialities in areas of great complexity.

Vall d’Hebron Research Institute (VHIR) is one of the most active Health Research Institutes (IIS) in Spain with 1200 researchers, 330 research projects and 877 ongoing clinical trials.

Our Metabolic Unit is a National Reference Center for Metabolic diseases for children and adults. We follow patients from the first days of life to elder ages, with a multidisciplinary team specific for the disease and necessities and a well-established transition program. We receive patients from all our country having the largest cohort of patients with Lysosomal Disorders in Spain.

Our Unit is in close contact with patient associations working together on many projects (educational, research). In the last years, we have developed a special dedication to lysosomal diseases.

Our centre participates in the Newborn Screening program in Catalunya which covers 21 treatable diseases and participates in International Metabolic Networks.

We dispose of high complexity treatments and participate in several clinical trials in different metabolic diseases with public and private partnerships.

Our professionals organize and participate as teachers in academic courses, Masters in Metabolic disorders and national and international meetings.


Our center offers diagnosis and treatment for the majority of treatable metabolic disorders, with a patient centered organitation.

  •  Prevention programs: Genetic testing of patients and families, Genetic counselling and Prenatal testing
  •  Acute care available 24 hours for all patients:
    – Emergency: 24 hour specialists with experience in metabolic disorders
    – Pharmacy: 24 hours available stock for emergency metabolic treatments
    – ICU for neonates, children and adults with renal support (hemodiafiltration, hemofiltration, peritoneal dialysis and MARS); respiratory support (high frecuency mechanical ventilation, non invasive ventilation, ECMO, NO); cardiocirculatory support (ECMO, external ventricular device) ; neurological support (hypothermia);
    – High risk surgery and high risk anesthesists
    – Pediatric transport program with expertise in metabolic disorders and possibility of early therapy initiation
  •  Ambulatory services: Multidisciplinary outpatient clinic, Pharmacy office for home treatments
  • Diagnostic services:
    ­ Laboratory 24 hours with ammonia, lactic and other metabolites
    ­Metabolic laboratory: biochemical diagnosis of all metabolic disorders related to proteins, carbohydrates and lipids with results in less than 24 hours, lysosomal enzymatic studies and biomarkers, respiratory chain activities in muscle,
    ­ Molecular laboratory: PCR, GCH array, NGS
    ­ Radiology and Neurofisiology studies
  •  Treatments:
    – Enzyme replacement and substrate reduction therapies
    – Special treatments and diets
    – Reference center for Trasplants: HSCT, hepatic, cardiac and renal trasplants
  •  Others: physiotherapy, social workers, psycologist, paliative care and home care


Coordinator of the Metabolic Unit Pediatric Neurology Department Hospital Universitari Vall d’Hebron, Barcelona, Spain


Inborn Errors of Metabolism in Adult patients Rare Diseases Unit Hospital Universitari Vall d’Hebron, Barcelona (Spain)