Metadata | |
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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 |