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hyper-beta-alaninemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyper-beta-alaninemia

MONDO:0009378

Also known as:hyperalaninemiahyperbetaalaninemia

Overview

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.

ResearchLimited published research (2 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyper-beta-alaninemia.

2 publications have been identified in PubMed for hyper-beta-alaninemia. Research spans Case Report / Case Series (100%).

Recent Publications

Nguyen TTN (2024). [PMID: 39720099](https://pubmed.ncbi.nlm.nih.gov/39720099/). *Front Pediatr*. [Case Report / Case Series]
Rizkallah D (2024). [PMID: 38833093](https://pubmed.ncbi.nlm.nih.gov/38833093/). *Metab Brain Dis*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 11:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:237400

Orphanet

European rare disease database

Orphanet:309147

GARD

Genetic and Rare Diseases Info Center

GARD:10267

Questions for Your Care Team

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hyper-beta-alaninemia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team