Other Names for this Disease
- GM2 gangliosidosis
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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.
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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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