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hyper-beta-alaninemia

Disease Summary
Associated Targets (0)

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0009378:  hyper-beta-alaninemia
GARD:0010267: 
MESH:C562684: 
Orphanet:309147: 
SCTID:2359002: 
UMLS:C0268630: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found