Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Research paper by Neil A NA Hanchard, Oleg A OA Shchelochkov, Angshumoy A Roy, Joanna J Wiszniewska, Jing J Wang, Edwina J EJ Popek, Saul S Karpen, Lee-Jun C LJ Wong, Fernando F Scaglia

Indexed on: 12 Apr '11Published on: 12 Apr '11Published in: Molecular Genetics and Metabolism


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.