Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a very rare metabolic disorder in which persons lack the enzyme involved in the degradation of the neurotransmitter GABA which in turn leads to an accumulation of 4-hydroxybutyric acid (or gammahydroxybutyric acid; GHB). In people with SSADH deficiency, the abnormal GABA and GHB levels is believe to be responsible for the plethora of symptoms these patients can develop, including
Common manifestations
• Delayed gross motor development
• Delayed mental development
• Delayed fine motor skill development
• Delayed speech and language development
• Hypotonia
Frequent manifestations
• Seizures
• Hyporeflexia
• Ataxia
• Behavioral problems
• Hyperkinesis
For more information about SSADH deficiency, visit www.ssadh.net

[@Jasonwho1974]

Can i ask we have Tyler coming up to 4 years old but cannot sit up or walk yet, is there any other ssadh cases where sitting up/walking is after the age of 4??

[@Nesli-ih4eu]

Hello, can you contact me for SSADH disease? This disease runs in my family. I wonder what symptoms other children have with this disease. I can help you if you have questions @jasonwho1974