Hospital Sant Joan de Déu

Barcelona, SPAIN

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

The area of expertise of the Healthcare Provider within the ERN covers all the IEM described so far (small and complex molecule defects, energy defects and metabolic disorders affecting exclusively the central nervous system). However our field of greater expertise and excellence is in those IEM that affect exclusively the brain in the paediatric age. We have all the facilities and internal structure/organization to offer clinical, biochemical and genetic diagnosis supported by other diagnostic procedures (brain image, neurophysiology, histopathology…). We will actively participate in different groups of diseases described within the metabERN network with a more specific and complex task in those category of disorders in which our group has had the most active participation at the clinical and scientific level. As examples, we have been co-founders of the first international network for the stidy of neurotransmitter related disorders:
I-NTD, and have participated in the first european registry of intoxication disorders (E-IMD) as partners.
We have also been partners of the European projec InNerMed (Information Network in Neurometabolic diseases). Therefore, in these group of disorders we play an active role in the application and validation of new diagnostic tools, patient registries and clinical guidelines. Regarding treatments of IEM we are very cautious in the application of the already approved protocols and international guidelines, since we have been involved in the elaboration and validation of these recommendations.
Our internal structure in the unit is composed by the following especialized services:
– The Neurology department (paediatricians, neurologists and paediatric neurologists specialized in metabolic medicine) develops an important part of the clinical work since most of our patients have some kind of neurological manifestation and we have a long tradition in the study of treatment of neurometabolic diseases.
– The Nutrion and Gastroenterology deparment (paeditricians specialized in metabolic medicine, dieticians) take care of the diet treatments and the nutricional aspects of the patients. Hepatologists also collaborate in those IEM affecting the liver and in the liver transplantation programme together with the Valle Hebrón Hospital, in Barcelona.
– The Laboratories of biochemistry, molecular biology and pathology (clinical biochemists, laboratory technicians, pathologists, molecular and cell biologists) give support to the diagnosis and research. There is an emergency laboratory that covers 24 hour tests if required. There are also doctors on call for the
metabolic patients during 24 hours.
– Since 2013 the expanded neonatal screening includes not only PKU but 20 more IEM. Patients detected on the half south area of Catalonia (distribution designated by the Catalan goverment) are refered to our centre and the half north go to Hospital Vall d’Hebrón (HVH) in Barcelona.

– For a complete overview of the diagnostic tests available, click here.


– Diet based treatments: restriction of proteins, lipids, and carbohydrate supplementation together with vitamins and cofactors depending on the disease (such as BH4 for PKU and some pterin disorders). We have treatment protocols for aminoacidopathies including urea cycle disorders, organic acidurias, beta-oxidation defects, carbohydrate diseases (fructosemia, galactosemia), ketogenic diet (GLUT-1 deficiency).
– Vitamin supplementation: vitamin B6, cobalamine, folate, thiamin, riboflavin, vitamines A/E, biotin for the specific metabolism and transport of these vitamins (pyridoxin dependent seizures, cobalamine defects, peripheral and cerebral folate deficiency, thiamine, riboflavin, vitamin E and biotin defects). Cobalamine, pyridoxine and, folate for the different types of homocystinuria.
– Amino acid supplements for IEM with protein restriction and defects in the amino acid synthesis .
– Pharmacological treatment for neurotransmitter deficiencies: L-Dopa+Carbidopa, 5-OH-tryptophan.
– Chelators and depurators: sodium benzoate, phenylbutirate, carbamylglutamate, carnitine, dichloroacetate, dichloropropionate, succinilacetone chelators (NTBC).
– Enzymatic replacement for lysosomal diseases.
– Intensive therapies to treat decompensations: extracorporeal depuration techniques.
– Gene therapy for the mucopolysaccharidoses (clinical trial).
– Others: betaine, creatine, dextromerorphan, lipoic acid, cysteamin, hemin arginate, diazoxide, octreotid.
– Diagnosis and therapy of hospitalized patients with all kind of IEM diseases.
– Specialized clinical management at the metabolic unit out-patient offices.
– The “Dietetic Kitchen” offers a basic treatment and support in the education of patients and families with IEM.
– The Pharmacy of the hospital constantly updates all the necessary orphan drugs required both in emergency situations and chronic treatments.
– Urgent biochemical analysis specific of IEM during 24 hours: glucose, ammonia, ions, redox status, lactate, ketone bodies, liver enzymes, urea, creatinine, clotting factors, CPK, triglycerides, uric acid. Amino acids and organic acids may be also urgently determined if the clinical situation requires those studies.
– Biochemical and genetic studies already described in I Area of Expertise of the Healthcare provider.
– Tissue culture (fibroblasts, lymphoblasts, ammiocytes) and biologic samples bank.
– Optic and electronic microscopy of muscle biopsy.

Need help or information? Contact us!

    Your Name (required)

    Your Email (required)


    Your Message

    Angela Garcia Cazorla

    Hospital Sant Joan de Déu, Esplugues. Barcelona, Spain.