GABA-transaminase deficiency

GABA-transaminase deficiency is a brain disease (encephalopathy) that begins in infancy. Babies with this disorder have recurrent seizures (epilepsy), uncontrolled limb movements (choreoathetosis), exaggerated reflexes (hyperreflexia), weak muscle tone (hypotonia), 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 following others' movement with their eyes or sitting unassisted. Individuals with this disorder usually do not survive past the first 2 years of life, but some live longer into childhood.

Other names

4 alpha aminobutyrate transaminase deficiency; ABAT deficiency; GABA transaminase deficiency; GABA transferase deficiency; GABA-T deficiency; Gamma aminobutyrate transaminase deficiency; Gamma aminobutyric acid transaminase deficiency; Gamma-aminobutyrate transaminase deficiency; Gamma-aminobutyric acid transaminase deficiency

Inheritance pattern

Autosomal recessive

Related genes

ABAT

Source: MedlinePlus Genetics, U.S. National Library of Medicine.