Mitochondrial deoxyguanosine kinase deficiency

(DGUOK deficiency)

Synonym(s)
- Mitochondrial DNA depletion syndrome type 3,
- arPEO with mitochondrial DNA deletions type 4,
- noncirrhotic portal hypertension
Type

Disease
External link(s)
- IEMbase
Gene
- DGUOK / Deoxyguokinase
  2p13.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Deoxyguokinase
Disease group(s)
- 9.1 Disorders of mitochondrial nucleotide pool maintenance
Child entries
- DGUOK deficiency, hepatocerebral form
- DGUOK deficiency, adult-onset