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 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease