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首页> 外文期刊>International Journal of Neonatal Screening >The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know
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The Further Adventures of Newborn Screening for Biotinidase Deficiency: Where It Is at and What We Still Need to Know

机译：新生儿生物素酶缺乏症筛查的进一步历程：它在哪里以及我们仍然需要知道什么

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摘要

Biotinidase de?ciency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes. Therefore, the disorder readily meets the major criteria for newborn screening. Our laboratory has been instrumental in developing, piloting and establishing newborn screening for the disorder in the United States and in many countries. This review discusses some of the “behind-the-scenes” aspects of how we spread the word about the disorder and what we learned from over 30 years of newborn screening. We also discuss some of the controversies and issues about biotinidase de?ciency that remain to be addressed. Based on the successful outcomes of older adolescents and adults with profound biotinidase de?ciency identi?ed by newborn screening, this is one of the best, if not the best, disorder for which to perform newborn screening. In summary, “If an individual has to have an inherited metabolic disorder, biotinidase de?ciency is the one to have.”
机译：生物素酶缺乏症是一种遗传性代谢疾病，如果不加以治疗，可能导致神经系统和皮肤症状。如果用维生素生物素治疗，这种疾病的患者可以明显改善，但是如果延迟治疗，仍然可能会遇到一些不可逆的问题。如果在出生时进行治疗，则生物素疗法可以预防长期结局所指示的症状的发展。因此，该疾病很容易满足新生儿筛查的主要标准。在美国和许多国家，我们的实验室在开发，试点和建立针对该疾病的新生儿筛查方面发挥了重要作用。这篇评论讨论了我们如何传播有关疾病的一些“幕后”方面以及我们从30多年来的新生儿筛查中学到的知识。我们还讨论了有关生物素酶缺乏症的一些争议和问题，尚待解决。根据通过新生儿筛查确定的具有深远生物素酶缺乏症的年龄较大的青少年和成年人的成功结果，这是进行新生儿筛查的最佳（即使不是最佳）疾病之一。总之，“如果一个人必须患有遗传性代谢疾病，那么生物素酶缺乏症就是其中之一。”

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