Hereditary Metabolic Diseases
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Institute of Hereditary Metabolic Diseases

Head: Univ.-Doz. Dr. Florian Lagler

The Institute of Hereditary Metabolic Diseases was founded in 2008. It is devoted to the research of rare genetic metabolic diseases at basic research level, to translational as well as clinical research. Many of these disease lead, if recognised too late or left untreated, to grave disability or death. The diagnosis and development of therapies for these very rare diseases are a big challenge and are worked on in our institute in the following aspects:

  • Development of innovative diagnosis strategies and methods
  • Optimisation of the effectiveness and safety of the established medicinal products
  • Development of innovative therapies

Centre for Rare Diseases

A disease is considered rare in Europe if on the average no more than one person in 2,000 people is affected. The rare diseases (SK) are often of genetic origin, chronic and often leading to changes that gravely affect the quality of life, which can affect many organs – also the skin, the nervous system and the metabolism, among others. The patients with SK practically always need a multidisciplinary treatment. 70 to 75 per cent of them are children, which emphasises the importance of the preventive and prophylactic efforts.

In Austria, the Federal Ministry of Health has prepared a National Action Plan for Rare Diseases. A National Coordination Centre for Rare Diseases started its work in 2011. In addition, in December 2011, with the founding of Pro Rare Austria Alliance for Rare Diseases, an umbrella organisation was created, in order to provide a stronger voice for the common concerns of those affected by an SK.

The EU as wellhas supported the provision of improved care for the patients suffering from an SK. An important working body in this respect are the European Union Committee of Experts on Rare Diseases (EUCERD) as well as the EU research support program e-rare.

Centre for Rare Diseases

The Salzburg University Hospital has been working actively for a long time on the research, diagnosis and therapy of rare diseases. In particular, the university clinics for dermatology, paediatrics and adolescent medicine, neurology and internal medicine I/special mission for metabolism diseases and the Research Institute of Hereditary Metabolic Diseases of Paracelsus Medical University are working together in the SK area.

An important part of the centre is the so-called Board for Rare Diseases which was created at the end of 2011. This Board meets every quarter of the year to discuss particularly complex cases on interdisciplinary basis. Furthermore, supra-regional cooperation with the Medical University in Innsbruck was initiated and a forum for rare diseases was founded. Jointly with the physicians from Innsbruck, the Second and Third Austrian Congress for Rare Diseases were organised in Salzburg and Innsbruck.

The patients receive special mentoring in the special outpatient sections of the centre. So there is a special outpatient section for genetic dermatoses (Director: Priv.-Doz. Dr. Martin Laimer), for which there is already a telephone information centre (genetic dermatoses: Dr. Anja Diem, 0662 / 4482 57158).

Furthermore, one of the four university metabolism centres in Austria is in the university clinic for paediatric and adolescents care, which provides follow-up care of children from the newborn screening and establishes other metabolism disorders. One <12776>paediatric metabolism outpatient care section</12776> (Director: Priv.-Doz. Dr. Esther Maier), telephone information centre (Dr. Barbara Volkmar, 0662 / 4482 57158) as well as a special consultation for patients with mitochondriopathies (Director: Priv.-Doz.  Dr. Florian Lagler) are established, whereby a supra-regional service mission is in effect (

Special attention is paid also to the research in the rare diseases area. Along with the EU programs, the cooperation of the Salzburg University Hospital with the Research Institute of Hereditary Metabolic Diseases and the Centre for Tissue Regeneration and Neurorehabilitation at Paracelsus Medical Private University was expanded.


Univ.-Prof.-Dr. Johann Bauer, MBA
University Clinic for Dermatology, Salzburg
Tel. +43 (0)662 / 4482-3110

Paediatric and Adolescents Care
Univ.-Prof. Dr. Wolfgang Sperl
University Clinic for Paediatric and Adolescents Care
Tel. +43 (0)662 / 4482-2601

Univ.-Prof.Dr. Eugen Trinka, MSc
University Clinic for Neurology
Tel. +43 (0)662 / 4483-3000

University Clinic for Internal Medicine I/SA for metabolic diseases
Univ.-Doz.Dr. Bernard Paulweber
Tel. +43 (0)662 / 4482-2801

Institute for Hereditary Metabolic Diseases
Priv.-Doz. Dr. Florian Lagler
Paracelsus Medical Private University
Tel. +43 (0)662 / 2420-80760

Team and contact

Prof. Dr. med. univ. Florian Lagler
Head of the Institute for Metabolic Disease
Geschäftsführer Clinical Research Center Salzburg GmbH
Simulation Center

Phone: +43 662 2420-80760
Renate Mayrhofer
Institute of Metabolic Disease

Phone: +43 662 2420-80948
Franz Unterberger
Institute of Metabolic Disease

Mobile: +43 699 177 66011
Mag.a pharm. Anna Wiesinger
Institute of Metabolic Disease
PhD Student

Phone: +43 662 2420-80948
Mobile: +43 660 1241747