Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

作者：Hanchard Neil A; Shchelochkov Oleg A; Roy Angshumoy; Wiszniewska Joanna; Wang Jing; Popek Edwina J; Karpen Saul; Wong Lee Jun C; Scaglia Fernando^*

来源：Molecular Genetics and Metabolism, 2011, 103(3): 262-267.

DOI：10.1016/j.ymgme.2011.03.006

• mtDNA
• mtDNA depletion syndrome
• Neonatal liver failure
• Mitochondria
• Neonatal hemochromatosis
• DGUOK

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.

• 出版日期2011-7
• 单位湖南大学