Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States
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- 作者：Marcus J. Millera ; Lindsay C. Burragea ; James B. Gibsonb ; Meghan E. Strenkc ; Edward J. Losed ; David P. Bicke ; Sarah H. Elseaa ; V. Reid Suttona ; Qin Suna ; Brett H. Grahama ; William J. Craigena ; Victor Wei Zhanga ; Lee-Jun C. Wonga ; ljwong@bcm.edu" class="auth_mail" title="E-mail the corresponding author
- 关键词：VLCAD ; Inborn error of metabolism ; Fatty acid oxidation ; Newborn screening ; ACADVL ; VLCADD ; NBS ; V283A ; V243A
- 刊名：Molecular Genetics and Metabolism
- 出版年：2015
- 出版时间：November 2015
- 年：2015
- 卷：116
- 期：3
- 页码：139-145
- 全文大小：733 K
文摘
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> 200 unique variants were identified in ~ 700 patients NBS screen positive for VLCADD.
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Carrier status was the most common NBS outcome.
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8 VUSs were reclassified to likely pathogenic using in silico approaches.
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~ 10% of NBS screen positive patients had at least one copy of the p.V283A allele.
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7 unrelated homo p.V283A patients had mild or no clinical findings early in life.