Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. Issue 1 (January 2019)

• Record Type: Journal Article
• Authors: Waich, Stephanie; Roscher, Anne; Brunner-Krainz, Michaela; Cortina, Gerard; Köstl, Gerhard; Feichtinger, Rene G.; Entenmann, Andreas; Müller, Thomas; Knisely, A.S.; Mayr, Johannes A.; Janecke, Andreas R.; Vodopiutz, Julia
• Is Part Of: Journal of pediatric gastroenterology and nutrition. Volume 68:Issue 1(2019)
• Publication Date: 2019-01
• Subjects: deletion -- exome -- founder mutation -- hepatocellular carcinoma -- infant -- neonatal liver failure; Children -- Nutrition -- Periodicals; Pediatric gastroenterology -- Periodicals; Infants -- Nutrition -- Periodicals; Nutrition disorders in children -- Periodicals; Child Nutrition -- Periodicals; Digestive System -- growth & development -- Periodicals; Gastrointestinal Diseases -- Periodicals; Infant Nutrition -- Periodicals; Nutrition Disorders -- Periodicals; Child; 618.923
• DOI: 10.1097/MPG.0000000000002149
• Languages: English
• ISSNs: 0277-2116

Abstract

Abstract : ABSTRACT: Mutations in the nuclear gene DGUOK, encoding deoxyguanosine kinase, cause an infantile hepatocerebral type of mitochondrial depletion syndrome (MDS). We report 6 MDS patients harboring bi-allelic DGUOK mutations, of which 3 are novel, including a large intragenic Austrian founder deletion. One patient was diagnosed with hepatocellular carcinoma aged 6 months, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.