Search Ontology:
Human Disease
hypervalinemia and hyperleucine-isoleucinemia
- Term ID
- DOID:0060950
- Synonyms
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- branched-chain aminotransferase 2 deficiency
- Definition
- An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/25653144/
- References
- Ontology
- Human Disease ( DOID:0060950 )
- is a type of
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Genes Involved
Zebrafish Models
Citations