NEWBORN SCREENING FOR MUCOPOLYSACCHARIDOSIS (MPS1) PILOT STUDY

新生儿筛查的目标是检测新生儿的潜在致命或致残情况，从而 为早期治疗提供了机会之窗，通常是在儿童仍然没有症状的时候。是这样的 早期发现和治疗可以对该病的临床严重性产生深远的影响 受影响的孩子。如果不进行诊断和治疗，针对性疾病的后果可能是可怕的， 许多造成不可逆转的神经损伤、智力、发育和身体残疾，以及 甚至是死亡。2006年，美国医学遗传学学院(ACMG)开发了新生儿筛查 建议对所有新生儿进行31项“核心疾病”筛查和26项筛查的指导方针 应报告在核心评价期间发现的次要情况。这些建议具有 已被卫生与公众服务部部长关于新生儿遗传性疾病的咨询委员会和 儿童健康中心(ACHDNC)(由2000年《儿童健康法》授权)，并由卫生和卫生局秘书批准。 大多数州现在使用这种或非常类似的面板进行新生儿筛查。目前，有数千家 已经确定的罕见疾病和数百种可能从新生儿筛查中受益的疾病。 MPSI是一种罕见的遗传性代谢性疾病，个体缺乏一种称为溶酶体的酶 α-L-艾杜糖醛酸酶。如果没有这种特定的酶，个体就不能分解长链糖链。 被称为糖胺多聚糖的分子。糖胺聚糖会积聚，并会损害器官，包括 心脏。Mps1的严重形式被称为赫勒综合征，死亡发生在早期 童年。弱化型(Huler/Scheie综合征和Scheie综合征)发病较晚，死亡 发生在十几岁或二十多岁的时候。投手综合征是该病的主要形式(75%-80% 患者的数量)。

The goal of newborn screening is to detect potentially fatal or disabling conditions in newborns, thereby providing a window of opportunity for early treatment, often while the child is still asymptomatic. Such early detection and treatment can have a profound impact on the clinical severity of the condition in the affected child. If left undiagnosed and untreated, the consequences of the targeted disorders can be dire, many causing irreversible neurological damage, intellectual, developmental and physical disabilities, and even death. In 2006, the American College of Medical Genetics (ACMG) developed newborn screening guidelines that recommend that all newborn infants be screened for 31 "core conditions" and that 26 secondary conditions identified during the core evaluations be reported. These recommendations have been accepted by the HHS Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) (authorized by the Children's Health Act of 2000), and by the Secretary of HHS. Most states now use this or very similar panels for newborn screening. Currently, there are thousands of rare disorders that have been identified and hundreds that could potentially benefit from newborn screening. MPSI is a rare, inherited disease of metabolism in which an individual lacks an enzyme called lysosomal alpha-L-iduronidase. Without the specific enzyme individuals cannot break down long chains of sugar molecules called glycosaminoglycans. The glycosaminglycans build up and can damage organs, including the heart. The severe form of MPS1 is known as Hurler syndrome in which death occurs in early childhood. Attenuated forms (Huler/Scheie and Scheie syndromes) have a later onset in which death occurs either in the teens or twenties. Hurler syndrome is the predominant form of the disease (75-80% of patients).