Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

Neil A. Hanchard, Oleg A. Shchelochkov, Angshumoy Roy, Joanna Wiszniewska, Jing Wang, Edwina J. Popek, Saul Karpen, Lee Jun C. Wong, Fernando Scaglia

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


Mutations in DGUOK result in mitochondrial DNA (mtDNA) depletion and may present as neonatal liver failure. Neonatal hemochromatosis (NH1) is a liver disorder of uncertain and varied etiology characterized by hepatic and non-reticuloendothelial siderosis. To date, deoxyguanosine kinase (dGK2) 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.

Original languageEnglish (US)
Pages (from-to)262-267
Number of pages6
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Jul 2011
Externally publishedYes


  • Mitochondria
  • MtDNA
  • MtDNA depletion syndrome
  • Neonatal hemochromatosis
  • Neonatal liver failure

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology


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