GABA-Transaminase (GABA-T) deficiency is characterized by developmental delay, weak muscle tone (hypotonia), uncontrolled limb movements (choreoathetosis), recurrent seizures (epilepsy), exaggerated reflexes (hyperreflexia), and excessive sleepiness (hypersomnolence). Affected babies may grow faster in length than usual (accelerated linear growth), even though they have feeding problems and may not gain weight as quickly as expected (failure to thrive). Children with GABA-transaminase deficiency have profoundly impaired development. Most do not achieve normal developmental milestones of infancy, such as sitting unassisted. In the past, reports suggested mortality in the first 2 years of life. However, recent reports indicate survival into adolescence and adulthood. We are still learning more about GABA-T deficiency.
ABAT