This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.
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