hyper-beta-alaninemia https://rarediseases.info.nih.gov/diseases/10267/hyperbetaalaninemia https://www.malacards.org/card/hyper_beta_alaninemia MONDO:0009378 hyperbetaalaninemia UMLS:C0268630 hyper-beta-alaninemia OMIM:237400 Orphanet:309147 SCTID:2359002 hyperalaninemia GARD:0010267 Hyperbetaalaninemia is a very rare metabolic condition.Hyperbetaalaninemia refers to thebuild-upof protein building blocks, called beta amino acids, in the body. The excess beta amino acidsare neurotoxic to the body. Signs and symptoms of hyperbetaalaninemia includeconvulsions (rapid and uncontrollable shaking), lethargy, and encephalopathy.Hyperbetaalaninemia is thought to be due to a loss ofa functional form of the enzyme,beta-alanine-alpha-ketoglutarate transaminase.Treatment with oral pyridoxine wasdemonstrated to be helpful in one case. MEDGEN:75702 ICD9:270.8 MESH:C562684 inborn disorder of pyrimidine metabolism