| Term Name: | hypervalinemia and hyperleucine-isoleucinemia |
|---|---|
| Synonyms: | 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. |
| Ontology: | Human Disease [DOID:0060950] ( DOID:0060950 ) |