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Diseases

Genetic and Rare Diseases Information Center (GARD)

Gamma aminobutyric acid transaminase deficiency


Other Names for this Disease
  • GABA transaminase deficiency
  • Gamma aminobutyrate transaminase deficiency
  • GABAT
  • 4 alpha aminobutyrate transaminase deficiency
  • ABAT
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Overview

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]

Last updated: 3/20/2015

References

  1. ABAT. Genetics Home Reference. March 2015; http://ghr.nlm.nih.gov/gene/ABAT. Accessed 3/20/2015.
  2. 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.
  3. GABA-TRANSAMINASE DEFICIENCY. OMIM. Dec 2009; http://omim.org/entry/613163. Accessed 3/20/2015.
  4. 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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In Depth Information

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Gamma aminobutyric acid transaminase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • GABA transaminase deficiency
  • Gamma aminobutyrate transaminase deficiency
  • GABAT
  • 4 alpha aminobutyrate transaminase deficiency
  • ABAT
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.