Print friendly version
Other Names for this Disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
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.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),
Last updated: 6/5/2013
- HYPER-BETA-ALANINEMIA. Online Mendelian Inheritance in Man. December 8, 1994; http://omim.org/entry/237400. Accessed 6/5/2013.
Your Questions Answeredby the Genetic and Rare Diseases Information Center
Please contact us with your questions about Hyperbetaalaninemia. We will answer your question and update these pages with new resources and information.
On this page
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Hyperbetaalaninemia. Click on the link to go to OMIM and review these resources.
- 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.