Gamma aminobutyric acid transaminase deficiency
Other Names for this Disease
- GABA transaminase deficiency
- Gamma aminobutyrate transaminase deficiency
- 4 alpha aminobutyrate transaminase deficiency
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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.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.
Last updated: 3/20/2015
- ABAT. Genetics Home Reference. March 2015; http://ghr.nlm.nih.gov/gene/ABAT. Accessed 3/20/2015.
- Parviz, M. et al.. Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies. J Pediatr Epilepsy. 2014 Nov 25; 3(4):217-227. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256671/. Accessed 3/20/2015.
- GABA-TRANSAMINASE DEFICIENCY. OMIM. Dec 2009; http://omim.org/entry/613163. Accessed 3/20/2015.
- Pearl, P. et al. Inherited Disorders of GABA Metabolism. Future Neurol. 2006; 1(5):632-636. http://www.pndassoc.org/pdf/Pearl.pdf. Accessed 3/20/2015.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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