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Congenital Metabolic Disease

We use personalised therapies to treat metabolic diseases expressed as neurological disorders.

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.

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.

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.

 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 (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.

We diagnose an average of 80 patients per year

These diseases, also known as congenital metabolic diseases, are considered rare or minority diseases. Despite being uncommon diseases, inborn errors of metabolism (IEMs) constitute a significant group in which around 800 different diseases have been identified. In 90% of cases they are associated with a neurological disorder. Currently, in Catalonia, early detection is possible for around 20 IEMs through screening during the neonatal period based on standardised protocols.

In the Congenital Metabolic Disease Unit, we diagnose around 80 patients each year, a third of whom are infants. This figure has increased in recent years thanks to early diagnosis, which allows us to increasingly tailor the treatments to each patient and reduce future complications. Our Unit also manages external samples from other centres that request a second opinion in order to give a more accurate diagnosis.

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