hyper-beta-alaninemia
Findings
No curated finding names hyper-beta-alaninemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009378), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: hyper-beta-alaninemia
- Also called
- hyperalaninemia