Jump to content
Powered by

Heidelberg expert to coordinate European network on inherited metabolic disorders

A European network for research into rare inherited metabolic disorders will be coordinated by PD Dr. Stefan Kölker, head of the Division of Inherited Metabolic Diseases at the Centre for Paediatric and Adolescent Medicine, University of Heidelberg. The project, which will initially run for three years, has a financial volume of 1.3 million euros. More than 40 partners from 17 European countries are part of the “European registry and network for intoxication type metabolic diseases (E-IMD)”.

PD Dr. Stefan Kölker, head of the Division of Inherited Metabolic Diseases, Centre for Paediatric and Adolescent Medicine, University Children’s Hospital, University of Heidelberg © University Hospital Heidelberg

The objective of the project is to establish a central European registry and develop evidence-based treatment guidelines for patients suffering from organic acidurias and urea cycle defects. These diseases, which represent a group of rare inborn errors of metabolism that lead to the accumulation of neurotoxic intermediary products, can lead to death or severe organ damage if left untreated. However, the early diagnosis of these diseases often enables the establishment of successful lifelong therapies.

Treatment guideline sets international standards

Around 450 inherited metabolic diseases are known, affecting around one in 500 newborns in Germany. As the diseases are very rare, doctors and researchers still have limited knowledge about how they develop and how to treat them. In addition, the diseases are often diagnosed very late and competent treatment is often not possible in many countries. Therefore, it is highly important for experts from around the world to work together closely in order to improve research, diagnosis and therapies.

“The Heidelberg Metabolism Centre has been successfully diagnosing and treating patients suffering from these diseases for many years,” said paediatrician Dr. Stefan Kölker, who, together with his team, has developed a guideline based on the highest scientific and clinical standards which enables the successful treatment of patients suffering from the inherited metabolic disorder glutaric aciduria type I.

Most babies with glutaric aciduria type I appear normal at birth. However, feverish infections can lead to irreversible neurological damage. As a consequence, the children might lose their ability to speak, have difficulty moving and or become dependent on wheelchairs. Dietary control from the moment of birth, lifelong medical treatment and the early therapy of infections help limit or prevent progression of the neurological damage in many children who then go on to develop normally.

Further information:

PD. Dr. Stefan Kölker
Head of the Division of Inherited Metabolic Diseases
Centre for Paediatric and Adolescent Medicine
Tel.: +49 (0) 62 21 564 002
E-mail: stefan.koelker(at)med.uni-heidelberg.de

Website address: https://www.gesundheitsindustrie-bw.de/en/article/press-release/heidelberg-expert-to-coordinate-european-network-on-inherited-metabolic-disorders