Hospital Universitario Cruces

Barakaldo, Spain


The origin of Unit of Rare Metabolic Diseases at Cruces University Hospital is dated from 1974. It started as a necessity derived from its specific healthcare need and from the insufficient technological infrastructure for its diagnosis. Our Unit was designated as CSUR for Hereditary Metabolic Diseases (paediatrics and adult) in 2015.

Our main expertise is in amino acid and organic acid related disorders, fatty acid oxidation disorders, carbohydrate disorders and lysosomal disorders. Currently, over 350 patients diagnosed with hereditary metabolic diseases are being managed at our Centre. Our expertise, competency and healthcare professionals’ qualifications are demonstrated by the wide variety of potential diagnosis as well as their clinical manifestations which requires sensible use of resources.

Our Unit main goal is to provide patients with a multidisciplinary, coordinated and comprehensive care (diagnosis, treatment and prevention), as well as promoting research and knowledge translation. These aims will be reflected in our contribution to Metab-ERN.

Healthcare level: we define our actions in three main categories: establishment of pre-clinical and symptomatic diagnosis; provide healthcare at both acute and chronic stages; and coordination of the process.

Integration among the different groups is promoted by multidisciplinary clinical sessions which involve all Units in charge of these patients’ healthcare. Clinical management and treatment coordination are discussed. This multidisciplinary care is coordinated by our Unit and in collaboration with other Paediatrics Unit, Internal Medicine and Adult Specialities.

Our experience and participation in several registries (European Registry E-HOD and for Galactosemia; National Registry for PKU, Tyrosinemia and MPSIII) allow us to implement and contribute to these extremely rare conditions in order to know their natural history and to establish procedures and clinical practice guidelines based on clinical evidence. In this regard, we could contribute to one of the main objectives of Metab-ERN.

Participation in Newborn Screening Programme in the Basque Country. One of the members of our Unit belongs to Newborn Screening Advisory Committee in order to ensure an adequate coordination for Newborn Screening Programme. Moreover, our Unit has participated in the elaboration of several newborn screening documents.

Our Unit keeps a close relationship with patients and families and patients organizations by means of informative talks and development of educational material. Special focus is given to parents’ education on nutritional management of their children.

Educational level, our Unit will contribute to dissemination and improvement of training in the field of hereditary metabolic diseases both at national and European level. This translation of knowledge is reflected in articles, books and guidelines.

Research laboratory part of BioCruces Health Research Institute ( and Spanish Network CIBERER (


  • Prevention: Genetic Counselling
  • Acute care: Intensive care unit (ICU) for newborn, paediatric and adult patients. Monitoring. Mechanical ventilators. Hemodynamic facilities (intravenous lines, suction pumps, drains and catheters, drugs). Kidney dialysis (hemodiafiltration, hemodialysis). ECMO, nitric oxide. Therapeutic hypothermia. Emergency protocols. Surgery (both paediatrics and adults): Enteral nutrition (gastrostomy), tracheostomy, Transplant (liver, kidney…).
  • Ambulatory services: Specific care facilities for both paediatrics and adult patients with hereditary metabolic diseases for diagnosis, treatment and follow-up. Patient’s care in collaboration with dietician-nutritional experts for the design of personalized diets. Day Hospital for functional tests, enzyme replacement therapy and monitoring. Qualified nursing staff. Collaboration with healthcare professionals from other Centres.
  • Diagnostic services:
    – Biochemical emergency determinations for specific hereditary metabolic diseases (24h/7days/365days).
    – Metabolic Biochemical determinations: amino acids, acylcarnitines, guanidinoacetic acid, lactate, organic acids, glycosaminoglycans, galactose. – Enzyme activity assays: lysosomal enzymes. – Genetic Screening: Next Generation Sequencing. – Functional tests: BH4 loading test, pterin levels, alopurinol test, methionine loading test, N-carbamil-glutamate loading test, vitamin B12 test (methylmalonic acidemia), biotin test (propionic acidemia), isoleucine loading test, tests for trimethylaminuria diagnosis, fasting test, glucagon test, glucose or lactate loading tests, stress tests. – Imaging: X-Ray radiography, computed tomography, MRI conventional and with spectroscopy, scintigraphy, PET. – Cardiac and respiratory functional test: ECG and Spirometry. – Anatomopathological studies by optic and electronic microscopy. – Neurophysiology and neuromuscular: Electromyography and electroneurography. Conventional EEG, aEEG, video-electroencephalography. Visual, auditory and somatosensory evoked potentials. – Assessment of IQ (intelligence quotient)/development quotient.
  • Interventional therapeutic services:
    – Pharmacological treatment: stock of Emergency drugs for metabolic diseases. Enzyme replacement treatment.
    – Dietary and nutritional treatment: Special Formula (for example amino acid free). Medicine food. Personalized diet design.
  • Rehabilitation services: Rehabilitation Unit and Early Assistance.
  •  Palliative care services: Home hospitalization.


Hospital Universitario Cruces, Barakaldo, Spain