Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
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DOI：
10.1016/j.ymgme.2016.05.007
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发表时间：
2016-08
影响因子：
3.8
通讯作者：
IBEMC
中科院分区：
文献类型：
--
作者：
Pena LD;van Calcar SC;Hansen J;Edick MJ;Walsh Vockley C;Leslie N;Cameron C;Mohsen AW;Berry SA;Arnold GL;Vockley J;IBEMC
极长链酰基辅酶A脱氢酶（VLCAD）缺乏症可出现在从新生儿期到成年期的各个年龄段，并且在并发症期间或长时间禁食后造成并发症的风险最大。早期诊断、治疗和监测可以降低死亡率;因此，该疾病被列入美国新生儿推荐统一筛查小组（RUSP）。先天性代谢缺陷信息系统（IBEM-IS）成立于2007年，旨在收集新生儿筛查（NBS）计划中包括VLCAD缺陷在内的先天性代谢缺陷个体的纵向信息。我们回顾性分析了NBS诊断为VLCAD缺陷的患者的早期结局，并描述了52名1-18岁患者的初始表现、诊断、临床结局和治疗。产妇产前症状没有报告，大多数新生儿仍然无症状。心肌病在队列中不常见，诊断为2/52例。肌酸激酶升高是一种常见的发现，通常首先发生在幼儿期（1-3岁）。诊断评估需要几种检测方式，最常见的血浆酰基肉碱概况和分子检测。功能测试，包括成纤维细胞酰基肉毒碱分析和白色血细胞或成纤维细胞酶测定，是一个有用的诊断辅助，如果未鉴定的突变。
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting. Early diagnosis, treatment, and surveillance can reduce mortality; hence, the disorder is included in the newborn Recommended Uniform Screening Panel (RUSP) in the United States. The Inborn Errors of Metabolism Information System (IBEM-IS) was established in 2007 to collect longitudinal information on individuals with inborn errors of metabolism included in newborn screening (NBS) programs, including VLCAD deficiency. We retrospectively analyzed early outcomes for individuals who were diagnosed with VLCAD deficiency by NBS and describe initial presentations, diagnosis, clinical outcomes and treatment in a cohort of 52 individuals ages 1–18 years. Maternal prenatal symptoms were not reported, and most newborns remained asymptomatic. Cardiomyopathy was uncommon in the cohort, diagnosed in 2/52 cases. Elevations in creatine kinase were a common finding, and usually first occurred during the toddler period (1–3 years of age). Diagnostic evaluations required several testing modalities, most commonly plasma acylcarnitine profiles and molecular testing. Functional testing, including fibroblast acylcarnitine profiling and white blood cell or fibroblast enzyme assay, is a useful diagnostic adjunct if uncharacterized mutations are identified.