SSADH Association

The SSADH Association is a voluntary, not-for-profit, 501(c) (3) organization dedicated to helping children and families affected by an ultra-rare neurometabolic disorder known as Succinic Semialdehyde Dehydrogenase Deficiency or SSADH. The SSADH Association is committed to those affected by this neurotransmitter disease through education, advocacy, and research. Succinic semialdehyde dehydrogenase deficiency (SSADH) is an ultra-rare neurometabolic disorder characterized by a lack of one of two enzymes involved in the breakdown of GABA, the major inhibitory neurotransmitter in the brain. GABA controls the movements of humans, and when it is imbalanced, major neurological abnormalities occur. With SSADH, neurotransmitters in neurons are blocked from signaling one another correctly. Due to the enzyme deficiency in SSADH patients, an unusual compound accumulates in the body, namely 4-hydroxybutyric acid or gamma-hydroxybutyric acid (GHB). The GHB accumulation may interfere with the patient’s ability to walk, speak, concentrate and process information. Since the disorder was originally described in 1981 by Cornelis Jakobs, PhD. over 200 cases of SSADH have been identified. However, due to the variability and nonspecific nature of associated symptoms, experts suggest that this disorder may be significantly underdiagnosed and/or misdiagnosed. As a result, it is difficult to determine the true frequency of SSADH in the general population.