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Congenital Metabolic Diseases: what makes us different

Our extensive experience and treatment of complex diseases

We have more than 40 years' accumulated experience in the field of inborn errors of metabolism. During this time, our team of experts have perfected our detection, techniques and coordination in caring for families. Each year we diagnose around 80 new patients.

Genetic confirmation enables us to provide accurate diagnoses.

We have a molecular biology laboratory which genetically confirms each of the defects using specific gene panels for the illnesses. In cases where there is an inborn error of metabolism, there exist biochemical or symptomatological markers that are common to several diseases. Therefore, it is necessary to go a step further to determine the genetic origin of each disease, and thanks to our technical and laboratory resources we can reach a highly-accurate diagnosis.

In fact, SJD Barcelona Children's Hospital is one of the three European centres that conduct studies on amino acids and neurotransmitters. These studies are conducted in the biochemical laboratory, with which the Congenital Metabolic Disease Unit works closely on a daily basis.

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

An average of 15 specialists in various fields of Neuropaediatrics, Gastroenterology, Nutrition, Psychology, Pharmacy and Biochemistry attend to the patients and their families. Our professionals work in a coordinated manner and are involved at various stages of the diagnosis, treatment and follow-up of these particularly complex cases. The dietetic treatment and the learning guidelines are essential in certain cases, therefore we not only treat affected children and adolescents, but we also provide their families with advice and guidance.

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

We are part of the European registry and network for Intoxication type Metabolic Diseases (EIMD) and have been leaders in Spain since 2011. We are also part of the homocystinurias network (E-HOD) and we co-lead the International Working Group on Neurotransmitter Related disorders (INTD). We have recently joined the European network for congenital metabolic diseases (metabERN), in which we lead the subgroup for small molecule diseases that affect the cerebral metabolism (neurotransmitters, metals and cerebral glucose transporter deficiencies, among others). This enables us to share clinical management guidelines for these complex diseases, as well as create areas of focus based on clinical evidence and shared experience from several hospitals.

Raising awareness and catering to families' social needs

The Metabolic Guide portal, launched by SJD Barcelona Children's Hospital, provides information and guidance for families. We work together with the Culinary Techniques Educational Programme and the special food bank for patients affected by an IEM to make it easier to follow the nutritional guidelines. We also have a Unit for Transition to Adult Life for our patients, in collaboration with Hospital Clínic.