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Support for creative research against SSADH-deficiency & hope for our kids

Creative research against SSADH-deficit - and hope for our kids

C. Cinquemani from ssadh-Defizit e.V.Write a message

- European conference on SSADH-deficiency and similar enzymatic defects
- Award for creative Research approaches

Background: 
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.

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