hypervalinemia and hyperleucine-isoleucinemia
Findings
No curated finding names hypervalinemia and hyperleucine-isoleucinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0100058), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Brisk reflexesHPOHP:0001348
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- Hoffmann signHPOHP:0031993
- 1 of 1 reported patient
- HyperisoleucinemiaHPOHP:0010913
- 1 of 1 reported patient
- HyperleucinemiaHPO · MondoHP:0010911
- 1 of 1 reported patient
- HypervalinemiaHPO · MondoHP:0010910
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- BCAT2HGNC:977
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: hypervalinemia and hyperleucine-isoleucinemia
- Also called
- branched-chain aminotransferase deficiencyHVLIhypervalinemia or hyperleucine-isoleucinemia