Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency
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- 作者：Stefan Stendera ; b ; Stefan.stender@utsouthwestern.edu" class="auth_mail" title="E-mail the corresponding author ; Rima S. Chakrabartia ; d ; Rima.shah@utsouthwestern.edu" class="auth_mail" title="E-mail the corresponding author ; Chao Xingb ; Chao.xing@utsouthwestern.edu" class="auth_mail" title="E-mail the corresponding author ; Garrett Gotwayc ; Garrett.gotway@utsouthwestern.edu" class="auth_mail" title="E-mail the corresponding author ; Jonathan C. Cohenb ; Jonathan.cohen@utsouthwestern.edu" class="auth_mail" title="E-mail the corresponding author ; Helen H. Hobbsa ; b ; d ; Helen.hobbs@utsouthwestern.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：AA ; amino acid ; CT ; computed tomography ; MAF ; minor allele frequency ; MRI ; magnetic resonance imaging ; ROH ; runs of homozygosity ; SAH ; S-adenosylhomocysteine ; SAM ; S-adenosylmethionine
- 刊名：Molecular Genetics and Metabolism
- 出版年：2015
- 出版时间：December 2015
- 年：2015
- 卷：116
- 期：4
- 页码：269-274
- 全文大小：487 K
文摘
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S-Adenosylhomocysteine (SAH) hydrolase deficiency typically presents in infancy.
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Here we describe a woman with SAH hydrolase deficiency who presented in adulthood.
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The proband had two healthy sons, one of whom was asymptomatic at 7 years of age despite being SAH hydrolase deficient.
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SAH hydrolase deficiency can be associated with early-onset hepatocellular carcinoma.