Question: What is (are) Gamma aminobutyric acid transaminase deficiency ?
Answer: GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency.[1] The symptoms for an individual with GABA-T deficiency can include: psychomotor retardation (a slowing down of thought and activity), low muscle tone, hyperactive responses, lethargy, seizures, and EEG abnormalities.[1] GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature.[2] It is thought to be inherited in an autosomal recessive manner.[3][4]
Source: GARD