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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

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.