Search Ontology:
Human Disease

hypervalinemia and hyperleucine-isoleucinemia

Term ID
DOID:0060950
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. https://pubmed.ncbi.nlm.nih.gov/25653144/
References
Ontology
Human Disease   ( DOID:0060950 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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