Hyperbetaalaninemia
Alternate names[edit | edit source]
Hyperalaninemia; Hyper-beta-alaninemia
Definition[edit | edit source]
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.
Cause[edit | edit source]
Hyperbetaalaninemia is thought to be due to a loss of a functional form of the enzyme, beta-alanine-alpha-ketoglutarate transaminase.
Signs and symptoms[edit | edit source]
Signs and symptoms of hyperbetaalaninemia include convulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.
Treatment[edit | edit source]
Treatment with oral pyridoxine was demonstrated to be helpful in one case.
NIH genetic and rare disease info[edit source]
Hyperbetaalaninemia is a rare disease.
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