Term Name: | hypervalinemia and hyperleucine-isoleucinemia |
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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 ) |