Abstract
Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism
are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase
deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency
includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy
with a nonprogressive course in typical cases, although a progressive form in early
childhood as well as deterioration in adulthood with worsening epilepsy are reported.
GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic
encephalopathy.
Keywords
Neurometabolic diseases - SSADH deficiency - GABA-T deficiency - epileptic encephalopathy
