Area of expertise and Healthcare Provider’s contribution to care for patients within the MetabERN Network
AOU Policlinico Umberto I di Roma
Rome, ITALY
The AOU Policlinico Umberto I, built in the late 1900s, is the largest University Hospital in Europe and it is known at a national level for highly specialized care and its II level Emergency and Acceptance Department. It is a complex structure where research, training and assistance activities are inextricably intertwined.
Within this frame the Rare Neurometabolic Diseases Center of the Human Neuroscience Department is a national reference center for developmental onset neurometabolic diseases, a regional reference center for over 100 rare diseases and a clinical reference center for expanded metabolic newborn screening. Our center is included in numerous therapeutic trials.
Main area of expertise is diagnosis and treatment of metabolic disorders presenting with movement disorders, neurodevelopmental disorders, and epilepsies. In detail our experience mainly focuses on amino acid and organic acid related disorders (AOA) and disorders of neuromodulators and small molecules (NOMS). Indeed, the HCP Representative is part of international networks for the development of guidelines for phenylketonuria and disorders of the biogenic amines’ metabolism.
Our team consists of child neuropsychiatrist specialized in neurometabolic disorders, flanked by pediatricians, pathologists, geneticists, specialized dieticians, psychologists, physical therapists, biologists, chemists, and nursing stuff, taking care of hundreds of patients with different types of inherited metabolic diseases.
The center works in thigh connection with a specialized laboratory focused on the diagnosis of Inborn Errors of Metabolism and expanded neonatal screening.
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
Specific treatments are intended for neurotransmitter disorders; hypokinetic and hyperkinetic movement disorders due to metabolic disorders (e.g. Wilson disease, treatable mitochondral encephalopathies, organic acidurias, treatable lysosomal disorders); epileptic and developmental encephalopathies associated with metabolic disorders (e.g. GLUT1 defect, B6 and folate defects, etc); all the conditions included in the Italian expanded newborn screening program; gene therapy for AADC defect (under approval).
In detail the HCP provides:
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- Genetic counselling and prenatal diagnosis
- Newborn screening for over 40 intermediate metabolism diseases, diagnosis confirmation, treatment, and follow-up of affected neonates
- Symptomatic diagnosis by means of biochemical and molecular testing
- Tailored dietary management (included ketogenic diet)
- Intensive care treatment
- Access to all medical and surgical specialties
- Specific medical or surgical treatments for complications of the disease (e.g. gastrostomy, tracheostomy, not invasive ventilation, etc.)
- Expertise in children movement disorder diagnosis and treatment
- Access to specialized diagnostic services: radiology (ultrasound, X-ray, CT, MRI, HMRS, fMRI, etc.), nuclear medicine, echography, echocardiography, neurophysiology, sleep study
- Neurophysiological characterization of seizures and movement disorders
- Neuropsychological assessment for diagnosis and treatment
- Regular laboratory monitoring also for home samples
- Clinical trial center
- Neurorehabilitation services
- Deep brain stimulation for patients with untreatable and life-threatening movement disorders
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