- European conference on SSADH-deficiency and similar enzymatic defects
- Award for creative Research approaches
The deficiency of succinate semi-analdehyde dehydrogenase is an extremely rare hereditary and congenital metabolic disorder (about 450 cases known worldwide). SSADH deficiency is a deficiency of enzymes that leads to the accumulation of gamma-aminobutyric acid (GABA) in the body. GABA is one of the most important substances (inhibitory neurotransmitter) in the brain and controls human movements, among other things. In the event of a deficiency of SSADH, this signal transmission is disturbed, which has a significant influence on the central nervous system and leads to a severe impairment of neurological function. Thus, metabolic disorder is one of the neurotransmitter diseases.