Home > D. Systemic pathology > Genetic and developmental anomalies > Genetic metabolic diseases > deoxyguanosine kinase deficiency

deoxyguanosine kinase deficiency

Friday 16 September 2011

Synopsis

- neonatal hemochromatosis
- severe progressive liver failure

References

- Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Mol Genet Metab. 2011 Jul;103(3):262-7. PMID: #21478040#

- Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure. Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G. J Appl Genet. 2011 Feb;52(1):61-6. Epub 2010 Nov 16. PMID: #21107780#