Ospedale Pediatrico Bambino Gesù


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

Children Hospital Bambino Gesù is recognised at the national level as an Institute for Research, Hospitalization and Health Care (Istituto di Ricovero e Cura a Carattere Scientifico – IRCCS) in pediatric patients, and it participates to the Regional Health Care System accreditation program of the Lazio Region in Italy. OPBG is also accredited as Academic Hospital by Joint Commission International, a non-governmental, non-profit organization that has been dedicated to improve the quality, safety and efficiency of healthcare for over 75 years. JCI Accreditation has a three-year term; the last JCI accreditation visit was held in October 2015. The hospital is regional refence centre for Metabolic Diseases.

The Metabolic Unit of the Hospital, headed by Dr Carlo Dionisi-Vici, is highly specialised in pediatric metabolic disorders. The team is composed by pediatricians, child/adult neurologists, and a team of specialised nurses. The Unit includes also a laboratory facilty fully dedicated to the diagnosis of Inborn Errors of Metabolism and to translational research.
The Unit is supported by specialized dieticians and psychologists.

Specific focuses are:
– Carbohydrate, fatty acid oxidation disorders (C-FAO)
– Mitochondrial disorders, pyruvate metabolism (MD)
– Urea cycle, amino- and organic acids related disorders
– Lysosomal disorders

The Metabolic Unit works in tight collaboration with the MITO team, headed by Dr. Enrico Bertini, a neurologist with specific and consolidated expertise in mitochondrial disorders and neurometabolic diseases.

The Units partecipated in guidelines development (urea cycle defects, propionic and methylmalonic acidurias, and remethylation defects), consensus articles (hereditary tyrosinemia type 1, Niemann Pick diseases, Pompe disease), and recently created a new algorithm for the diagnosis and treatment of congenital hyperinsulinism.

At regional level, our center has contributed to guideline development for inherited disorders of sugar, aminoacid and lipid metabolism. We partecipated to clinical trials in mitochondrial disorders, cblC defect, Niemann pick type C disease, urea cycle defects.

Both Units are actively involvent in patients enrollment in national/international registries for Mitochondrial disordes (Mitocon), homocystinurias methylation and remethylation defects (EHOD), urea cycle defects & organic acidurias (EIMD), Niemann Pick disease type C and Pompe disease.

Main clinical and translational research areas: Inborn Errors of Intermediary Metabolism, Remethylation Defects, Hypoglycemia & Hyperinsulisms, Lysosomal Storage Diseases, Mitochondrial Disease, Inherited Disorders of Intracellular Vescicle Trafficking

The Units collaborate with the Associazione “La Vita è un Dono”, E-IMD & E-HOD consortia, Società Italiana Glicogenosi, MITOCON, Associazione Italiana Niemann Pick Onlus, CblC patients group, Italian Neuromuscular Alliance and of the TREAT-NMD Alliance.


  • Management of emergencies in Inborn Errors of Metabolism
  • Solid organ (liver and kidney) transplantation program in Inborn Errors of Metabolism
  • Hematopoietic stem cell transplantation in Inborn Errors of Metabolism
  • Global care of Congenital Hyperinsulinsms (diagnosis, medical & surgical treatment)
  • Ketogenic diet program
  • Enzyme replacement and substrate reduction therapies in Lysosomal Storage Diseases
  • Neurorehabilitation service
  • Clinical trials (ongoing lysosomal storage disorders, mitochondrial disorders)

Key resources

  • Access to all Medical & Surgical Pediatric subspecialties (Metabolic Unit, Nephrology & Dialysis, Hematology, Cardiology, Respiratory diseases, Gastrointerology, Heptaology, Nutrition, Neurology and Neuroradiology units and the Rehabilitation service, Infusion unit, Abdominal surgery, Cardiotoracic surgery, Neurosurgery, Ophtalmology, etc.)
  • Access to Pediatric and Neonatal Intensive Care Units
  • Solid Organ Transplantation and Hematopoietic stem cell transplantation facilities
  • Access to Specialized Diagnostics Services: radiology (CT, MRI/MRS), nuclear medicine, echography, echocardiography, neurophysiology (EEG, EMG, VEP, SEP, AEP, NCV, BERA), sleep study.
  • Specialized metabolic diagnostic laboratories which provide full metabolite assays (aminoacid, organic acid, acylcarnitines, orotic acid, oxysterols, peroxisomal profile, 7-dehydrocholesterol, creatine/GAA, GAG, lysosphingolipids, etc.), biochemical analysis of respiratory chain and lysosomal enzymes in tissues and cultured cells; molecular biology functional assays; DNA analysis through direct sequencing of target genes and up to date genetic techniques including next generation sequencing and whole exome sequencing.
    • An overview of the basic and enzyme metabolic tests that are being offered by the hospital can be found here.
  • Clinical Trial Center available in the hospital
  • Access to social care organization for insurance counselling and orphan drug treatment, and supportive devices.

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    Enrico Bertini

    Ospedale Pediatrico Bambino Gesù