2008/09/29 by David Dimmock, J. Kay Dunn, Annette Feigenbaum +6 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #Cytomegalovirus and herpesvirus research #Medicine #Liver transplantation #Transplantation #Hypotonia #Pediatrics #Internal medicine
paper · doi:10.1002/lt.21556
openalex publication_date 2008/09/29 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
Deoxyguanosine kinase (DGUOK) deficiency is the commonest type of mitochondrial DNA depletion associated with a hepatocerebral phenotype. In this article, we evaluate predictors of survival and therapeutic options in patients with DGUOK deficiency. A systematic search of MEDLINE, LILAC, and SCIELO was carried out to identify peer-reviewed clinical trials, randomized controlled trials, meta-analyses, and other studies with clinical pertinence. DGUOK deficiency was searched with the terms dGK, DGUOK, mitochondrial DNA depletion, mtDNA, and hepatocerebral. Bibliographies of identified articles were reviewed for additional references. Thirteen identified studies met the inclusion criteria and were used in this study. The analysis revealed that DGUOK deficiency is associated with a variable clinical phenotype. Long-term survival is best predicted by the absence of profound hypotonia, significant psychomotor retardation, or nystagmus. In the presence of these features, there is increased mortality, and liver transplantation does not confer increased survival. In summary, liver transplantation appears to be futile in the presence of specific neurological signs or symptoms in patients affected with DGUOK deficiency. Conversely, in the absence of these neurological features, liver transplantation may be considered a potential treatment.