Mechanism and prevention of cerebral injury in inherited neurometabolic disorders

Koelker Stefan Kölker

Dept. of General Pediatrics
Division of Inherited Metabolic Diseases
University Children's Hospital
Im Neuenheimer Feld 430
69120 Heidelberg

Phone:  +49-6221-562311
Fax:  +49-6221-565565

Research Summary:

Organic acid disorders are inherited deficiencies of key enzymes in amino acid catabolism characteristically resulting in an accumulation of specific intermediary metabolites (“organic acids”) and, clinically, in irreversible cerebral injury of untreated children. Evidence is increasing that some of these accumulating intermediary metabolites cause mitochondrial dysfunction and thus are considered as endogenous toxins. We therefore use a translational approach combining pathophysiological studies in animals and cell cultures and clinical studies to elucidate the tissue-specific production, transport and key mechanism of putatively neurotoxic metabolites of organic acid disorders as well as the efficacy of therapeutic strategies.

Structure of the Group:

Group Leader Stefan Kölker (in close cooperation with Jürgen G. Okun)
Postdoctoral fellows a) Pathophysiological studies: Marina Morath, Sven Sauer
b) Clinical studies: Nikolas Boy, Friederike Hörster, Tamaris Zwickler
PhD Students Silvana Opp
MD Students Jana Heringer
Technicians Patrik Feyh, Monika Herm


Editor: A. Summerfield
Latest Revision: 2013-03-06
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