SSADH deficiency is a rare and debilitating neurometabolic disease. It is caused by mutations in the gene encoding for the succinic semialdehyde dehydrogenase (SSADH) enzyme, that lead to the synthesis of enzymatic variants unable to perform an efficient catalysis. This enzyme is responsible for one of the catabolic pathways of the inhibitory neurotransmitter GABA, which is essential for motor control. When the levels of GABA...

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