SSADH Deficiency is an orphan neurological disease caused by mutations in SSADH, resulting in elevated levels of succinic semialdehyde. Excess succinic semialdehyde is converted into GHB, GABA, and other metabolites that lead to severe neurological dysfunction, including cognitive delay, seizures, and motor dysfunction. Excess levels of GHB (also known as sodium oxybate, a drug marketed for psychiatric disorders and used illicitly as an intoxicant) and GABA impair neuronal transmission. A small number of patients with a diagnosis of autism have been found to have SSADH Deficiency.
"SSADH Deficiency is a debilitating orphan neurological disease with no approved therapy," commented
The data presented at the
About Succinic Semialdehyde Dehydrogenase Deficiency
Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency is a neurological disease caused by genetic mutations that result in elevated levels of succinic semialdehyde, which are toxic and ultimately result in severe neurological dysfunction, including motor dysfunction, seizures, speech impairment, intellectual disability, and autistic behavior. There is currently no
About Aldeyra Therapeutics
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