Azienda Ospedaliera Universitaria “Federico II”, Napoli

Naples, ITALY

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

The Azienda Ospedialiera Universitaria (AOU) Federico II, is the Academic Hospital of Federico II University (, Naples and is the referral centre of the Region Campania for the diagnosis, follow-up and care of patients with inherited diseases of metabolism.
Patients affected by these disorders are either identified by the neonatal screening program, or referred to AOU Federico II by regional hospitals, neonatal intensive care units, and by general or pediatric practitioners.
The centre has developed over the past 30 years a specific clinical and scientific expertise in this field, with a progressive increase of the cases in follow-up (currently about 400).
The patients that are currently followed at the AOU Federico II are affected by inborn defects of amino acid, urea cycle, organic acid, carbohydrate and energy metabolism, lysosomal storage diseases, peroxisomal disorders, defects of cholesterol biosynthesis, and others.
The majority of these patients are followed by the Department of Clinical Pediatrics. A program for the transition of pediatric patients affected to adult specialists is already active in our centre.

Clinical resources available at AOU Federico II are:
- Clinical units for in-patients, day hospital, ambulatories.
– Specialised diagnostics and consultancy (imaging, neurophysiology, ophthalmology, cardiology, gastroenterology, nephrology, neurology, audiology).
– Specialised metabolic diagnostic laboratories for screening of metabolites in biological fluids, enzyme diagnosis and DNA analysis (in collaboration with CEINGE – Biotecnologie Avanzate)

The AOU Federico II offers specific expertise for the treatment of these patients (with dietary management, pharmacological therapies, enzyme replacement, substrate reduction, chaperone therapy, and supportive and palliative treatments), thanks to the availability of a dedicated multidisciplinary team. Specialists involved in assisting patients with inborn errors of metabolism participate in the formation of general practitioners and hospital doctors.


The specialists of the team are members of Italian and European scientific societies (SSIEM, Society for the Study of Inborn Errors of Metabolism), with active participation in the programs of these societies.
The team is in contact and collaboration with Italian and international networks and participates in several collaborative research programs and clinical trials (independent of Company-sponsored). These research programs are mainly focused on the clinical development of innovative therapies of MME (enzyme replacement therapy, substrate reduction therapy, pharmacological chaperone, gene therapy).
Members of the team have developed specific expertise in preclinical research and have participated in research programs sponsored by different agencies (Italian Agency of Medicines, European Union, Telethon Foundation, Family associations). The research activity is documented by a large number of publications in peer-reviewed, international, high-impact factor journals.

Giancarlo Parenti

Azienda Ospedaliera Universitaria "Federico II", Napoli, Italy


Professor of Pediatrics, Dept. Of Pediatrics , School of Medicine , University of Naples , Italy.