Branched-chain ketoacid dehydrogenase kinase deficiency

(BCKDK deficiency)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- BCKDK / Branched Chain Ketoacid Kinase
  16p11.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Branched-chain alpha-keto acid dehydrogenase kinase
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.3 Disorders of branched-chain amino acid metabolism