BMJ Case Reports 2012; doi:10.1136/bcr.12.2011.5317
  • Rare disease

Neonatal liver failure due to deoxyguanosine kinase deficiency

  1. Luísa Diogo4
  1. 1Serviço de Medicina, Unidade de Gastrenterologia eHepatologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal
  2. 2Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal
  3. 3Laboratório de Bioquímica Genética – Centro de Neurociências e Biologia Celular, Universidade de Coimbra, Coimbra, Portugal
  4. 4Centro de Desenvolvimento da Criança, Unidade de Doenças Hereditárias do Metabolismo, Hospital Pediátrico de Coimbra, Coimbra, Portugal
  1. Correspondence to Dr Francisco Silva, franciscoftsilva{at}


Deoxyguanosine kinase (dGK) deficiency, a rare severe cause of mitochondrial DNA (mtDNA) depletion, has two forms of presentation: hepatocerebral syndrome and isolated hepatic disease. The authors report three cases with neonatal liver failure due to dGK deficiency. Consanguinity was present in all patients. One patient had a brother who died with a probable diagnosis of neonatal haemochromatosis. All patients had progressive cholestatic liver failure, hypoglycaemia, hyperlactacidaemia, elevated ferritin levels and nystagmus, since first day of life. Liver tissue study revealed: cholestasis, iron deposits, microvesicular steatosis and fibrosis/cirrhosis. Only one patient was submitted to liver transplantation. The other two died, at 2 and 5 months of age. mtDNA quantification and DGUOK gene study should be considered in infants/neonates with acute liver failure and systematically performed in patients with hepatocerebral presentation. Differential diagnosis with neonatal haemochromatosis is needed. Liver transplantation might be a therapeutic option. Early diagnosis is important for genetic counselling.


  • Competing interests None.

  • Patient consent Obtained.

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