Succinic semialdehyde dehydrogenase deficiency
RARE DISORDER INVOLVING DEFICIENCY IN GABA DEGRADATION
Gamma-hydroxybutyric aciduria; 4-hydroxybutyric aciduria; SSADH (succinic semialdehyde dehydrogenase deficiency); Γ-hydroxybutyric aciduria; Γ-Hydroxybutyric aciduria; Gamma-Hydroxybutyric aciduria
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families.