Succinic semialdehyde dehydrogenase deficiency

Disease Overview

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a disorder that can cause a variety of neurological and neuromuscular problems. The signs and symptoms can be extremely variable among affected individuals and may include mild to severe intellectual disability; developmental delay (especially involving speech); hypotonia; difficulty coordinating movements (ataxia); and/or seizures. Some affected individuals may also have decreased reflexes (hyporeflexia); nystagmus; hyperactivity; and/or behavioral problems.[4199][4200] SSADH deficiency is caused by mutations in the ALDH5A1 gene and is inherited in an autosomal recessive manner.[4200] Management is generally symptomatic and typically focuses on treating seizures and neurobehavioral issues.[4201]

Synonyms

• 4-hydroxybutyric aciduria
• Gamma-hydroxybutyricaciduria
• SSADH deficiency
• GABA metabolic defect