Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis

被引：30

作者：

Hanchard, Neil A. ^{[1
]}

Shchelochkov, Oleg A. ^{[2
]}

Roy, Angshumoy ^{[3
]}

Wiszniewska, Joanna ^{[1
]}

Wang, Jing ^{[1
]}

Popek, Edwina J. ^{[3
]}

Karpen, Saul ^{[4
]}

Wong, Lee-Jun C. ^{[1
]}

Scaglia, Fernando ^{[1
]}

机构：

[1] Baylor Coll Med, Dept Human & Mol Genet, Houston, TX 77030 USA

[2] Univ Iowa Hosp & Clin, Div Genet, Dept Pediat, Iowa City, IA 52242 USA

[3] Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA

[4] Texas Childrens Hosp, Baylor Coll Med, Ctr Liver, Houston, TX 77030 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2011年 / 103卷 / 03期

关键词：

mtDNA; mtDNA depletion syndrome; Neonatal liver failure; Mitochondria; Neonatal hemochromatosis; DGUOK; MITOCHONDRIAL-DNA DEPLETION; COMPARATIVE GENOMIC HYBRIDIZATION; MOLECULAR-FEATURES; UNIPARENTAL DISOMY; LIVER-FAILURE; GENE; IRON; MUTATIONS; DELETION;

D O I：

10.1016/j.ymgme.2011.03.006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 (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. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：262 / 267

页数：6

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