title: Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
abstract: Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH(1)) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK(2)) deficiency has not been formally recognized in cases of NH. We report an African American female neonate with clinical and autopsy findings consistent with NH, and mtDNA depletion due to a homozygous mutation in DGUOK. This report highlights hepatocerebral mtDNA depletion in the differential of neonatal tyrosinemia, advocates considering dGK deficiency in cases of NH, and posits mitochondrial oxidative processes in the pathogenesis of NH.
authors.affiliation: Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.
authors.forename: Neil A
authors.initials: NA
authors.lastname: Hanchard
authors.forename: Oleg A
authors.initials: OA
authors.lastname: Shchelochkov
authors.forename: Angshumoy
authors.initials: A
authors.lastname: Roy
authors.forename: Joanna
authors.initials: J
authors.lastname: Wiszniewska
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Edwina J
authors.initials: EJ
authors.lastname: Popek
authors.forename: Saul
authors.initials: S
authors.lastname: Karpen
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
authors.forename: Fernando
authors.initials: F
authors.lastname: Scaglia
mesh_terms: D001344:Autopsy; D004272:DNA, Mitochondrial / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006432:Hemochromatosis / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000172:deficiency* / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C019165:deoxyguanosine kinase