| Metadata | |
|---|---|
| ID | DOID:0060950 |
| Name | hypervalinemia and hyperleucine-isoleucinemia |
| 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/ |
| Xrefs | |
| Synonyms |
branched-chain aminotransferase 2 deficiency [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |