NEWBORN SCREENING FOR MUCOPOLYSACCHARIDOSIS (MPS1) PILOT STUDY

新生儿筛查的目标是检测新生儿中潜在的致命或致残状况，从而 为早期治疗提供了机会，通常在儿童仍无症状时。等 早期发现和治疗可以对疾病的临床严重程度产生深远的影响， 受影响的孩子如果不加以诊断和治疗，目标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， 甚至死亡2006年，美国医学遗传学学会（ACMG）开发了新生儿筛查 该指南建议所有新生儿都要接受31种“核心疾病”的筛查， 报告核心评价期间确定的次要条件。这些建议 已被卫生和公众服务部秘书的遗传性疾病咨询委员会接受， 儿童健康中心（ACHDNC）（经2000年《儿童健康法》授权）和卫生和公众服务部秘书授权。 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，有数千名 已经发现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疾病，患者缺乏一种称为溶酶体的酶 α-L-艾杜糖醛酸酶。没有这种特殊的酶，个体就不能分解长链的糖 称为糖胺聚糖的分子。糖胺聚糖积聚并可损害器官，包括 心脏MPS 1的严重形式被称为Hurler综合征，其中死亡发生在早期。 童年.减毒型（Happiness/Scheie综合征和Scheie综合征）发病较晚， 发生在十几岁或二十几岁的时候。Hurler综合征是该病的主要形式（75-80%）。 患者）。

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).