Branched-chain aminotransferase 2 deficiency

(BCAT2 deficiency)

Synonym(s)
- Hypervalinemia and hyperleucine-isoleucinemia
Type

Disease
External link(s)
- IEMbase
- VMH
Gene
- BCAT2 / branched chain amino acid transaminase 2
  19q13.33
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Branched-chain-amino-acid aminotransferase, mitochondrial
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.3 Disorders of branched-chain amino acid metabolism