University Hospital of Padova (Azienda Ospdaliera di Padova, AOP)

Padova, ITALY

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

The AOP is a Tertiary referral hospital with highly specialized departments and facilities for care of patients with Inherited Metabolic Diseases (IMD). A specific Division of IMD is present in the Paediatric Department building with n. 6 beds for hospital stay. The Unit is the Regional Centre of IMD. Care of patients with IMD are provide by other Unit in the AOP: Neurology Unit, Gastroenterology unit, Nefrology Unit, Clinical Genetic unit and Pediatric Clinic. The main diseases covered are: phenylketonuria, urea cycle defects, organic aciduria (propionic, methylmalonic glutaric aciduria), defects of biotin metabolism, defects of metabolism of branched chain aminoacids, mitochondrial, defects of fatty acid oxidation, the ketogenesis and ketolysis, defects in the metabolism of galactose, fructose, glycogen storage disease, lysosomal diseases, mucopolysaccharidosis, oligosaccaridosis, sphingolipidosis, mucolipidosis, peroxisome diseases, defects in protein glycosylation, defects of lipoprotein metabolism, defects in the metabolism of purines and pyrimidines, neurotransmitters disorders. The Division of Inherited Metabolic Diseases deals with pediatric and adult patients offering diagnosis, therapy and prevention of inherited metabolic diseases.
The AOP ensures:
– Treatment to patients with inherited metabolic diseases in acute decompensation state with collaboration of pediatric and adult ICU and chronic treatment including nutritional/pharmaceutical and transplantation options;
– Outpatients clinic for patients with IMD, which need clinical follow up including biochemical, neuroradiological, neurophysiological and consultation from other expert such as nephrologists gastroenterologist cardiologist hematologist ophthalmologist working in the AOP.
– Treatment in day hospital limited to certain diagnostic tests that require general anesthesia.
The AOP held the regional neonatal screening for the following disease: aminacids disorders, organic acids disordes, defect of beta oxidation and lysosomal storage disorders (DGR 1308 23/07/2013). The service covers Veneto, Trentino and Friuli Venezia Giulia regions (40000 newborn per year).
Moreover the laboratory provide a specialized diagnostic service running all the biochemical test for the diagnosis of IMD(defect of Aminoacids metabolism, organic acid, fatty acid oxydation, peroxisomal disorders, LSD, CDG, Neurotransmitter defect) including biomarkers and enzyme assay (>5000 samples/year).
The Clinical Genetic unit is covering all the DNA analysis for IMD confirmations.
The Centre is active in the field of clinical research and clinical trials of new orphan drugs (all approved by the AOP Ethical Committee).
The AOP is an University Hospital and is training Medical student and medical doctor, nurses, dieticians and clinical biochemists. A specific Master degree program in IMD for medical doctors has been activated.

For a full overview of diagnostic testing, click here.

SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs

The AOP is offering the following treatment for IEM:
– Nutritional support including special amino acid mix and diets for the following disorders: Phenylketonuria (PKU), Tyrosinemia, MSUD, organic acidurias, defects of beta oxidation and peroxisomal defects, by a specific team of dieticians, pediatricians and internist.
– Pharmacological treatment for LSD namely mucopolysaccharidosys, Fabry disease, Gaucher disease, Pompe disease, Niemann Pick by enzyme replacement therapy(ERT).
– Chaperon therapies for PKU, tyrosinemia type I, Niemann Pick type C NPC, Gaucher disease,
– Detoxification therapy for urea cycle disorders and organic acidurias.
– Cofactors therapies.
AOP is carry on a transplantation program including liver, kidney, bone marrow transplantation and a cellular transplantation program for hepatic disorders. Nowadays, AOP offer transplantation for MSUD, urea cycle disorders, organic acidurias, peroxisomal defects and mucopolysaccharidosis.
The patients with IMD are followed by different teams working in the AOP. Patients with neurological and psychiatric problems are followed by rehabilitation service and psychologist that create a special program for patient from the hospital to the home working in collaboration with the local support service.
Patients with special treatment that need frequent biochemical test can send the Dried Blood Spot (DBS) to our service and receive directly the results at home. In this way the patient without coming to the hospital they can discuss the optimal treatment by phone with the different people involved in the treatment of the disease. When the patients are sick at home they can contact a specialist by phone 24/7 that can give the best treatment at home or decide to admit the patient to the closed hospital or directly to AOP. For patient in whom no specific treatment can ameliorate the course or the disease and when the symptoms are extremely severe a palliative cure service is offered by AOP. The palliative service is working in strict contact with all the doctor that were following the patient during the life to offer the best symptomatic treatment.

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    ALBERTO BURLINA

    Division of Inherited Metabolic Diseases
Reference Centre Expanded Newborn Screening
Department of Woman's and Child's Health University Hospital of Padova, Padova, Italy