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hypervalinemia and hyperleucine-isoleucinemia (HVLI) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypervalinemia and hyperleucine-isoleucinemia

MONDO:0100058

Also known as:HVLIbranched-chain aminotransferase deficiencyhypervalinemia or hyperleucine-isoleucinemia

Overview

Elevated levels of plasma valine and leucine/isoleucine levels, associated with symptoms of headache and mild memory loss and attributed to biallelic variants in the BCAT2 gene. BCAT2 encodes branched-chain aminotransferase 2 which catalyzes the transamination of the branched chain amino acids to their respective α-keto acids.

GeneticsAutosomal recessive · BCAT2 (chr 19)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hyperisoleucinemia, Increased CSF protein concentration, Hoffmann sign, and Headache and others.

Organ System	Phenotype Count	Example Features
Lab test results	2	Increased CSF protein concentration, Elevated circulating alanine aminotransferase concentration

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BCAT2 encodes branched chain amino acid transaminase 2 (392 aa). Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine. Highest expression in Adrenal Gland (67.1 TPM) and Ovary (64.8 TPM).

Hypervalinemia and hyperleucine-isoleucinemia is caused by mutations in the BCAT2 gene on chromosome 19.

The BCAT2 protein participates in a-ketoisocaproate, a-keto-b-methylvalerate, or a-ketoisovalerate + glutamate leu, ile, or val + alpha-ketoglutarate [BCAT2] and leu, ile, or val + alpha-ketoglutarate a-ketoisocaproate, a-keto-b-methylvalerate, or a-ketoisovalerate + glutamate [BCAT2] pathways.

BCAT2 is classified as a druggable target (Enzyme and Transporter categories) with score 8.7.

Diagnosis

Genetic testing for BCAT2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 8 always present features.

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 hypervalinemia and hyperleucine-isoleucinemia.

9 publications have been identified in PubMed for hypervalinemia and hyperleucine-isoleucinemia. Research spans Basic Science / Preclinical (67%), Review / Meta-Analysis (11%), and Case Report / Case Series (11%).

Recent Publications

Filipic M (2026). [PMID: 41623317](https://pubmed.ncbi.nlm.nih.gov/41623317/). *Mol Genet Metab Rep*. [Review / Meta-Analysis]
Huang H (2026). [PMID: 41706543](https://pubmed.ncbi.nlm.nih.gov/41706543/). *New Phytol*. [Basic Science / Preclinical]
Adam CM (2026). [PMID: 42086670](https://pubmed.ncbi.nlm.nih.gov/42086670/). *Br J Cancer*. [Basic Science / Preclinical]
Li B (2026). [PMID: 41896729](https://pubmed.ncbi.nlm.nih.gov/41896729/). *BMC Genomics*. [Basic Science / Preclinical]
Wang J (2026). [PMID: 42136029](https://pubmed.ncbi.nlm.nih.gov/42136029/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 5:37 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618850

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hypervalinemia and hyperleucine-isoleucinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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