Landeskrankenhaus Salzburg-University Hospital Paracelsus Medical University
Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
The University Children’s Hospital, Paracelsus Medical University Salzburg, Austria is a nationally designated centre of expertise for Inherited Metabolic Diseases (according to the Austrian Structural Health Plan (ÖSG)) and an associated member of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).
This centre is a reference centre for Inherited Metabolic Diseases, especially:
- Mitochondrial diseases
- Lysosomal diseases
- Congenital disorders of glycosylation (CDG syndromes)
- Neurometabolic diseases
Our mission is to achieve precise and timely diagnoses and provide personalized treatment for patients with Inherited Metabolic Diseases by an orchestrated multidisciplinary approach. We synergize expertise (clinical, diagnostics & therapeutics, fundamental research) and technologies for patient-centred care. We offer in- and outpatient facilities as well as video consultations.
We offer a specialized multidisciplinary outpatient clinic facility for children with mitochondrial diseases and glycosylation disorders. All tests and consultations with the team (physiotherapists, dietitians, child neurologists, paediatric metabolic paediatrician, psychologists, cardiologists, palliative care specialists etc.) are organized in a one-day visit to the University Children’s Hospital, and coordinated by the secretary. Patients can opt to participate in research studies or patient registries.
We offer a well-established workflow for the diagnosis, clinical and biochemical phenotyping of mitochondrial disorders leading to the discovery of new genetic defects, their functional characterization and personalized treatment. We offer the complete range of diagnostic tests for mitochondrial diseases: the full range of genetic testing (including, exome sequencing, genome sequencing of both nuclear and mitochondrial DNA) as well as the full range of investigations of the oxidative phosphorylation system (OXPHOS) in muscle and skin fibroblasts.
We offer a specialized multidisciplinary outpatient clinic for children with unsolved rare and complex diseases, especially with unsolved developmental disorders (“Murmeltierambulanz” – “Marmot outpatient clinic”). All tests and consultations with the team (child neurologists, paediatric metabolic paediatrician, geneticists etc.) are organized in an outpatient clinic visit.
We offer specialized care for children and adolescents and together with our transition partners for adults with lysosomal storage diseases such as mucopolysaccharidoses (MPS), alpha-mannosidosis, Gaucher disease, Fabry disease, Niemann–Pick disease, Krabbe disease, Wolman disease, Pompe disease, cystinosis, neuronal ceroid lipofuscinoses (CLN), metachromatic leukodystrophy (MLD), as well as other sphingolipidoses, oligosaccharidoses, and lysosomal lipid storage diseases.
We have additional expertise in the areas of unresolved cases, exome-negative cases, second opinions, development of personalized therapies, n-of-1 studies, nutritional therapies, individualized therapeutic trials (compassionate use), intellectual disability, developmental delay, developmental disorders, movement disorders, neurotransmitter disorders, ketogenic diet, dietary supplements, vitamins, cofactors, pharmacology of drugs for the treatment of rare diseases (orphan drugs), and patient safety concepts in the field of rare metabolic diseases.
