40 Jahre nach Erstdiagnose: Eröffnung von Expertisezentrum für Stoffwechselstörungen bei Kindern

PMU Rector Wolfgang Sperl paved the way for the new center. The University Hospital Salzburg now has 4 Type-B Expertise Centers for rare diseases – all of them deal with children.

"For me, it is the culmination of a life's work," emphasizes Wolfgang Sperl, Rector of the Paracelsus Medical University (PMU). Forty years ago, he diagnosed a mitochondrial disease in a child for the first time in Innsbruck. Later, he focused his research activities on this group of rare congenital metabolic disorders.

Even as the head of the University Clinic for Pediatric and Adolescent Medicine – a position he held until 2020 – Sperl submitted the application for the Type-B Expertise Center that has now been officially opened. "It was a long journey, but now it is finally done," summarized Eugen Trinka, head of the University Clinic for Neurology and President of the Society of Salzburg Physicians.

Help for People with Rare Diseases

In the EU, fewer than 5 people per 10,000 inhabitants suffer from a rare disease. Due to the small number of cases per disease, excellent networking is crucial. Expertise centers ensure that people suffering from rare diseases receive optimal care. They are accredited by the Ministry of Health in Austria and receive a nationwide mandate for their specialty area. Additionally, they are integrated into the respective European Reference Networks (ERN). This means: Complex cases are discussed jointly by the best specialists from all over Europe and worldwide, and experiences are exchanged. Following the motto: Every single case is unique and is treated as such by the experts. With as many individual case studies as possible conducted across Europe, patterns of symptoms and therapy successes are to be identified despite the rarity, in order to help future patients early and effectively.

New Expertise Center: Mito-Haus and Lyso-Center

The newest Type-B Expertise Center at the University Hospital Salzburg is located at the University Clinic for Pediatric and Adolescent Medicine. Its specialty is congenital metabolic disorders with a focus on mitochondrial diseases and lysosomal storage disorders. "However, we are also responsible for all other congenital metabolic disorders," says Clinic Director Daniel Weghuber. The head of the Type-B Center for Congenital Metabolic Disorders is pediatrician and PMU Professor Saskia Wortmann. Within the center, there are two virtual buildings: the Mito-Haus, led by Wortmann and biochemist Hans Mayr, and the Lyso-Center headed by pediatrician Florian Lagler. The Mito-Haus focuses on identifying the causes of mitochondrial diseases through biochemical processes and genetic testing. The Lyso-Center emphasizes patient safety and individual case studies.

The newest Type-B Expertise Center at the University Hospital Salzburg is already the fourth. The other three are:

• Type-B Center for Epidermolysis bullosa ("Butterfly Children's Disease") at the University Clinic for Dermatology,
• Type-B Center for Cleft Lip and Palate and Craniofacial Anomalies (skull malformations) at the University Clinic for Oral and Maxillofacial Surgery,
• Type-B Center for Rare and Complex Epilepsies at the University Clinic for Neurology.

Source: SALK

Translated by Le Chat / Mistral AI