Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Azienda Ospedaliera Universitaria Senese
- Lysosomal storage disorders including leucodystrophies, Krabbe disease, Fabry disease, GM1 and GM2 Gangliosidosis, Niemann Pick, Gaucher disease, Ceroid lipofuscinosis, etc.
- Adrenoleucodystrophy and other paroxysmal disorders
- Disorder of pyruvate metabolism, Krebs cycle defects, mitochondrial oxidative phosphorylation disorders
- Carbohydrate, fatty acid oxidation and ketone bodies disorders
- Vitamin E deficiency
- Cerebrotendinous xanthomatosis
- Wilson and other metal transport disorders
- DNA Repair syndromes (ataxia teleangectasia and Werner Syndrome)
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
Specialized metabolic diagnostic laboratory for screening of metabolites in blood/urine/cerebrospinal fluid, enzyme diagnostics and DNA analysis.
Clinical units or day care facilities providing therapy (also enzyme replacement therapy, ERT).
Access to Medium Care and Intensive Care units familiar with the specific pathophysiology of lysosomal disorders and their management (e.g. airway management in mucopolysaccharidoses, dialysis).
Specialized Diagnostics: neuroradiology (CT, MRI/MRS), echocardiography, neurophysiology (EEG, EMG, VEP, SEP, AEP, NCV, BERA, sleep study, behavioural study and neuropsychiatry, neuro-ophtalmology, cardiology, gastroenterology, nephrology, urology, neurology, PED audiology, swallowing study.
Access to social care organization for insurance counseling and orphan drug treatment, and supportive devices (wheelchairs, etc.) handicap passport, rehab organization.