AREA OF EXPERTISE AND HEALTHCARE PROVIDER’S CONTRIBUTION TO CARE FOR PATIENTS WITHIN THE METABERN NETWORK
Santiago de Compostela, SPAIN
AREA OF EXPERTISE AND HEALTHCARE PROVIDER’S CONTRIBUTION TO CARE FOR PATIENTS WITHIN THE METABERN NETWORK
Our UDyTEMC, created in 1978 and designated CSUR in 2015, provides continuous care to an average of 427 patients / year, of which 85% were diagnosed with an Inherited Metabolic Disorder (IMD) and 15% remain in study. More than 70% of patients come from outside the Reference Area.The amino acidopathies and organic acidurias group stands out because of its prevalence (237 patients) and for having been subject of further research (participation in two European competitive studies, E-IMD and E-HOD, and 24 publications in JCR of this field in the last 5 years). It also has extensive experience in β-oxidation and carbohydrates metabolism disorders, and lysosomal diseases.
For our contribution to the network, we can provide expertise and quality through:
Our national and international experience and participation in patient records (currently the Unit coordinates in Spain the European E-HOD and galactosemia registry) allows us to implement and contribute to the development of these records in these complex pathologies, to analyze the situation we start from and deepen the knowledge of their natural history, and establish standardized protocols and guidelines based on clinical evidence for these processes.
We also have great experience in the group of diseases detected through expanded newborn screening by tandem mass spectrometry in our community which started in July 2000 and is one of the pioneer centers in Europe.
In regards to investigation, the Unit has extensive experience in projects of National and International research. Having a competitive research group working at the laboratory in the Unit and framed in a research institute accredited by ISCIII, also belonging to CIBERER as an affiliated clinical group, benefits the development of common projects.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPS