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GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain. GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T. Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency. 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. GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature. It is thought to be inherited in an autosomal recessive manner.
Source: GARD Last updated on 05-01-20
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