Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Waich, S; Roscher, A; Brunner-Krainz, M; Cortina, G; Köstl, G; Feichtinger, RG; Entenmann, A; Müller, T; Knisely, AS; Mayr, JA; Janecke, AR; Vodopiutz, J.
Severe DGUOK Deficiency in Austria: A Six-Patient Series.
J Pediatr Gastroenterol Nutr. 2018;
Doi: 10.1097/MPG.0000000000002149
PubMed
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- Co-Autor*innen der Med Uni Graz
- Knisely Alexander
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- 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 6mo, supporting a link between mitochondrial DNA depletion and tumorigenesis; liver transplantation proved beneficial with regard to both tumor treatment and psychomotor development.