Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency
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- 作者：Kevin A. Straussa ; b ; c ; 1 ; kstrauss@clinicforspecialchildren.org" class="auth_mail" title="E-mail the corresponding author ; Carlos Ferreirad ; 1 ; Teodoro Bottiglierie ; Xueqing Zhaof ; Erland Arninge ; Shucha Zhangf ; Steven H. Zeiself ; Maria L. Escolarg ; Nancy Presnicka ; Erik G. Puffenbergera ; b ; Oliver Vugrekh ; Lucija Kovacevich ; Conrad Wagneri ; George V. Mazariegosj ; S. Harvey Muddk ; 2 ; Kyle Soltysj ; 1
- 关键词：Transsulfuration ; Methyltransferases ; S-adenosylhomocysteine ; Liver transplantation
- 刊名：Molecular Genetics and Metabolism
- 出版年：2015
- 出版时间：September-October 2015
- 年：2015
- 卷：116
- 期：1-2
- 页码：44-52
- 全文大小：1237 K
文摘
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S-adenosylhomocysteine hydrolase (AHCY) deficiency disrupts transmethylation and is only minimally influenced by dietary interventions.
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Liver transplantation results in significant and stable metabolic control accompanied by in vivo evidence of increased transmethylation.
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Efficacy of liver transplantation for severe AHCY deficiency suggests a broader role for this strategy in select neurometabolic disorders.