title: Neonatal liver failure due to deoxyguanosine kinase deficiency.
abstract: 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.
authors.affiliation: Serviço de Medicina, Unidade de Gastrenterologia eHepatologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal.
authors.forename: Susana
authors.initials: S
authors.lastname: Nobre
authors.forename: Manuela
authors.initials: M
authors.lastname: Grazina
authors.forename: Francisco
authors.initials: F
authors.lastname: Silva
authors.forename: Carla
authors.initials: C
authors.lastname: Pinto
authors.forename: Isabel
authors.initials: I
authors.lastname: Gonçalves
authors.forename: Luísa
authors.initials: L
authors.lastname: Diogo
mesh_terms: D003241:Consanguinity; D004272:DNA, Mitochondrial / Q000235:genetics; D003937:Diagnosis, Differential; D003952:Diagnostic Imaging; D004569:Electroencephalography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017093:Liver Failure / Q000201:enzymology / Q000235:genetics*; D016031:Liver Transplantation; D008297:Male; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase