Article
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.
Journal of applied genetics - 1 Feb 2011
Pronicka Ewa, Węglewska-Jurkiewicz Anna, Taybert Joanna, Pronicki Maciej, Szymańska-Dębińska Tamara, Karkucińska-Więckowska Agnieszka, Jakóbkiewicz-Banecka Joanna, Kowalski Paweł, Piekutowska-Abramczuk Dorota, Pajdowska Magdalena, Socha Piotr, Sykut-Cegielska Jolanta, Węgrzyn Grzegorz
Abstract excerpt
Deoxyguanosine kinase deficiency (dGK) is a frequent cause of the hepatocerebral form of mitochondrial depletion syndrome (MDS). A group of 28 infants with severe progressive liver failure of unknown cause was recruited for post mortem search for deoxyguanosine kinase (DGUOK) gene mutations. Four affected patients (14% of the studied group), two homozygotes, one compound heterozygote, and one heterozygote, with...
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