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Genetic and Rare Diseases Information Center (GARD)

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Hyperbetaalaninemia


Other Names for this Disease

  • Hyper-beta-alaninemia
  • Hyperalaninemia
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Overview

Hyperbetaalaninemia is a very rare metabolic condition. Hyperbetaalaninemia refers to the build-up of protein building blocks, called beta amino acids, in the body. The excess beta amino acids are neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.  Hyperbetaalaninemia is thought to be due to a loss of a functional form of the enzyme, beta-alanine-alpha-ketoglutarate transaminase. Treatment with oral pyridoxine was demonstrated to be helpful in one case.[1]
Last updated: 6/5/2013

References

  1. HYPER-BETA-ALANINEMIA. Online Mendelian Inheritance in Man. December 8, 1994; http://omim.org/entry/237400. Accessed 6/5/2013.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyperbetaalaninemia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Hyper-beta-alaninemia
  • Hyperalaninemia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.