Hospital Universitario “12 de Octubre” Madrid

Madrid, SPAIN

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

Inborn errors of metabolism
Neonatal screening: amino acids , organic acids , fatty acids oxidation
Disorders of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders, disorders of thiamine transport and metabolism
Transition to adults

To be taken form the HCP application form (issue 8)
Diagnosis and follow-up
Genetic counselling

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs To be taken form the HCP application form (issue 9.B)

24 hours atentional treatments
Therapies with complexities, and enzymatic substitutive treatments
Emergency treatments and guides treatment
Dietetical and nutritional treatments
Intensive care

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    Dra. María Teresa García Silva

    Summary of curriculum vitae Dra. María Teresa García Silva, Profesor asociado Universidad Complutense Coordinador de la Unidad de Enfermedades Mitocondriales- Enfermedades Metabólicas Hereditarias. Dpto. de Pediatría. Hospital 12 de Octubre. Madrid.


    Unit of Mitochondrial and Hereditary Metabolic Diseases. Transition and adults patients. Division of Internal Medicine Associate Professor Complutense University “12 de Octubre” University Hospital. Madrid. (Spain)