Branched-chain ketoacid dehydrogenase phosphatase deficiency

(BCKDP deficiency)

Type

Disease
External link(s)
- IEMbase
Gene
- PPM1K / Protein phosphatase, Mg2+/Mn2+ dependent 1K
  4q22.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Protein phosphatase, Mg2+/Mn2+ dependent 1K
Pathway
- Branched-chain amino acid metabolism
Disease group(s)
- 1.3 Disorders of branched-chain amino acid metabolism