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

Diagnosis and follow-up
Treatment
Genetic counselling
Teaching

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

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

Dr. María Teresa García Silva

Coordinador for Universitary Hospital 12 de Octubre

DR MONTSERRAT MORALES CONEJO

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)