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Call center 93 253 21 00

Monday to Sunday, from 8 a.m. to 8:30 p.m.

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Monday to Friday, from 8 a.m. to 7 p.m.

SJD Barcelona Children´s Hospital

Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat

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 Familia espera en una sala junto a su gestora de casos en el Hospital Sant Joan de Déu Barcelona

The Congenital Metabolic Diseases Unit collaborates with research networks to offer the best, most highly personalized treatment possible.

The Congenital Metabolic Disease Unit at SJD Barcelona Children's Hospital is a national and European leader in the treatment of metabolic diseases. We offer patient care based on experience, research and collaborative work with research networks for the purpose of developing personalised treatments.

Accreditations

  • We have been granted the CSUR (Leading Centres, Services and Units) accreditation from the Ministry of Health, recognising us as a leading unit within the Neurology department.
  • We are also part of MetabERN metabolic disease network (the European Reference Network for Rare Hereditary Metabolic Disorders), where we coordinate a working sub-group specifically dedicated to neurometabolic diseases.

What are congenital metabolic diseases?

These pathologies, also known as inborn errors of metabolism (IEMs), are diseases caused by a genetic disorder, specifically affecting a protein or enzyme which causes a block in the metabolic process. This block alters the normal functioning of some cells and organs and is manifested as a series of symptoms that are specific to each patient, among which are several types of neurological syndrome.

This group of diseases is extensive but can be organised into a system of classification that is currently undergoing significant transformation, thanks to greater knowledge of the basic mechanisms of each disease. The main groups by type of disorder are as follows:

  • Small molecule IEMs: These affect the intermediary metabolism, which is the case for amino acid diseases (phenylketonuria or PKU and propionic acidemia). It also includes carbohydrate and neurotransmitter and neuromodulator defects.
  • Inborn errors of energy metabolism: These are characterised by a deficiency in the production or use of energy. They include mitochondrial diseases, pyruvate defects and glycogenosis (muscular and hepatic), among others.
  • Complex molecule IEMs: This group encompasses diseases that interfere in the synthesis of large molecules. They are manifested as permanent symptoms and are not related to nutrition. They include lysosomal diseases (mucopolysaccharidosis, oligosaccharidosis, sphingolipidosis, etc.), peroxisomal diseases (Zellweger syndrome, X-linked adrenoleukodystrophy) and congenital disorders of glycosylation, as well as other IEMs.

Why SJD Barcelona Children's Hospital?

We diagnose an average of 80 patients per year

 

We have extensive experience in the care of complex pathologies

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Genetic confirmation enables us to provide accurate diagnoses

SJD Barcelona Children's Hospital is one of the three European centres that conduct studies on amino acids and neurotransmitters.

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The IEM Unit is made up of an extensive, multidisciplinary team

Specialists in different areas work in coordination to offer the best care to our patients.

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We take part in different research projects and collaborate with a number of European networks

We share knowledge with various international centers and hospitals.

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Raising awareness and catering to families' social needs

We create and share resources for training patients and caregivers.

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Specialities and services

Neurology team

Mar O'Callaghan Gordo
Pediatric neurologist

Gastroenterology and Nutrition Team

Alejandra Gutiérrez Sánchez
Paediatric dietician-nutritionist
Natalia Egea Castillo
Paediatric dietician-nutritionist
María Dolores García Arenas
Paediatric dietician-nutritionist
Silvia Meavilla Olivas
Paediatrician specialist in Gastroenterology, Hepatology and Nutrition
Camila García Volpe
Paediatrician specialist in Gastroenterology, Hepatology and Nutrition
Mariela de Los Santos de Pelegrín
Paediatrician specialist in Gastroenterology, Hepatology and Nutrition
Cristina Molera Bussoms
Paediatrician specialist in Gastroenterology, Hepatology and Nutrition

Biochemistry Team

Aida Ormazabal Herrero
Clinical biochemist
Cristina Sierra March
Clinical biochemist
Mercedes Casado Rio
Clinical biochemist

Research

As well as treating patients, the professionals working in the Congenital Metabolic Disease (CMD) Unit of SJD Barcelona Children's Hospital develop different areas of research focused on improving diagnostic tools and therapeutic techniques for inborn errors of metabolism and other rare genetic-based diseases. Our research is carried out at the Sant Joan de Déu Research Institute (IRSJD).

This activity has allowed our unit to join CIBERER, the Centre for Biomedical Network Research on Rare Diseases, which counts genetic and metabolic diseases among the rare disease research it conducts. The main lines of study are as follows: 

  • PKU and other disorders of intermediary metabolism.
  • Mitochondrial energy metabolism and ataxias.
  • Applied research in neuromuscular diseases.
  • Synaptic and neural communication disorders in neurometabolic diseases (synaptic metabolism laboratory).
  • Vitamin-sensitive movement disorders.
  • Collaborative research in Lowe Syndrome.
  • Development of clinical and radiological scales for the evolution of congenital disorders of protein glycosylation.
  • Diagnosis of patients with IEM in the Atlas Mountains in Morocco thanks to the NGO Nousol.

The IEM unit also works in coordination with several European research networks, including:

  • MetabERN (European Reference Network for Hereditary Metabolic Diseases). 
  • E-IMD (European Registry of Intoxication Metabolic Diseases). 
  • E-HOD (European Registry of homocystinurias).
  • InNerMed (Inherited Neurometabolic Diseases).
  • I-NTD (International Working Group of Neurotransmitter Related Disorders).
  • INPDA (International Niemann-Pick Disease Alliance). 
  • Connecting The Growing Brain (Neurotransmitters and Synaptic Metabolism in Paediatric Neurology). 
  • RRD Foundation (Recordati Rare Diseases Foundation), involved in the scientific committee and the preparation of specific programmes