کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1999153 1065843 2011 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی زیست شیمی
پیش نمایش صفحه اول مقاله
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 103, Issue 3, July 2011, Pages 262–267
نویسندگان
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