succinic semialdehyde dehydrogenase deficiency

info · Genetic

A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.

Signs and symptoms

Global developmental delay
Delayed speech and language development
Generalized hypotonia
Motor delay
Intellectual disability
Bilateral tonic-clonic seizure
Hyperkinetic movements
Generalized myoclonic seizure
Generalized non-motor (absence) seizure
Elevated circulating gamma-aminobutyric acid concentration

Also known as: 4-hydroxybutyric aciduria; SSADH; gamma-hydroxybutyric aciduria