Inborn Errors of Metabolism: Disorders of the catabolism of branched-chain amino acids and D-glycerate kinase deficiency
Research project at a glance
Departments and Instituts
01.01.2015 to 31.12.2025
Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism (IEM). Many metabolic diseases result in early death or severe handicaps if they are not treated in an adequate manner. Early diagnosis is a prerequisite for therapeutic approaches, which may enable normal development in some of those diseases. We continuously offer internships and thesis projects focused on analytical biochemistry (for example on the development of diagnostic tests) and on the characterization of metabolic diseases.
We have special interest in various IEM, for instance in those affecting the catabolism of branched-chain amino acids (including disorders of ketogenesis and ketolysis and HSD10 disease). Our aim is a better understanding of the mechanisms underlying those potentially life-threatening disorders. Following the identification of genetic deficiency of D-glycerate kinase as the cause of D-glyceric aciduria by our group, this enzyme of the serine pathway (also involved in fructose metabolism) continues to be studied as well.
NOVEL METABOLIC DISORDER: