Neurophthalmological Findings in Deoxyguanosine Kinase Deficiency: A Poor Outcome Predictor

Journal of Pediatric Neurology 2021; 19(06): 457-458
DOI: 10.1055/s-0040-1721433

Letter to the Editor

Evelina Maines

¹Department of Women's and Children's Health, Pediatric Unit, Provincial Agency for Health Services, “S. Chiara” Hospital, Trento, Italy

,

Alessandro Iodice

²Department of Women's and Children's Health, Child Neurology and Psychiatry Unit, Provincial Agency for Health Services, Trento, Italy

References
1 El-Hattab AW, Scaglia F, Wong LJ. Deoxyguanosine kinase deficiency. 2009 Jun 18. In: Adam MP, Ardinger HH, Pagon RA. et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; ; 1993–2020. Accessed September 23, 2020 at: https://www.ncbi.nlm.nih.gov/books/NBK7040/
2 Dimmock DP, Zhang Q, Dionisi-Vici C. et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008; 29 (02) 330-331
3 Freisinger P, Fütterer N, Lankes E. et al. Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations. Arch Neurol 2006; 63 (08) 1129-1134
4 Dimmock DP, Dunn JK, Feigenbaum A. et al. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl 2008; 14 (10) 1480-1485
5 Haudry C, de Lonlay P, Malan V. et al. Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab 2012; 107 (04) 700-704