Long‐term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single‐center experience and a review of the literature
Enke Grabhorn, Konstantinos Tsiakas, Uta Herden, Lutz Fischer, Peter Freisinger, Thorsten Marquardt, Rainer Ganschow, Andrea Briem‐Richter, René Santer – 30 January 2014 – Deoxyguanosine kinase (DGUOK) deficiency is a well‐known cause of hepatocerebral mitochondrial DNA depletion syndromes, which include a broad spectrum of clinical presentations. Affected patients often develop life‐threatening liver failure, but the benefits of liver transplantation (LT) are controversial because of the frequently severe neurological involvement due to the underlying mitochondrial disease.