ASYMPTOMATIC METACHROMATIC LEUKODYSTROPHY SCREENING

描述：(改编自申请人的摘要)无症状 注定要死于异染性脑白质营养不良的婴儿 (MLD)，可通过尿硫脂阳性来识别。什么时候 在生命早期被发现，骨髓移植可以提供， 根据最初的数据，一种有效的，也许是治愈的， 治疗。MLD患者的尿硫脂具有以下特征 这种病。硫脂的检测可以通过使用 尿液浸泡滤纸，一种用于收集质量的方法 其他疾病的筛查。滤纸中的硫脂可以是 通过连续流动-快速原子轰击-提取和量化- 质谱学，可能通过电喷雾/MS/MS 第一阶段赠款将开发提取和 量化，以便大规模筛查将是可行的。三 有计划的步骤： 1.优化了硫脂提取工艺条件。 尿液浸泡过的滤纸上的肌酸。 2.优化硫脂质量分析条件 光谱分析。 3.接口和自动化提取和质谱分析 方法：研究方法。第二阶段将包括对75,000个样本进行筛选 已经收集并可用。第三阶段将筛选500,000 每年在特定地点采集样本。介绍几种状态 卫生部门的筛查程序将在 随后的几年，付款来自第三方提供商和 国家财政收入。

DESCRIPTION: (Adapted from the applicant's abstract) Asymptomatic infants who are destined to die from metachromatic leukodystrophy (MLD), can be identified by urine positive for sulfatides. When detected early in life, bone marrow transplantation can provide, according to initial data, an effective, perhaps curative, treatment. Urine sulfatides of MLD patients are characteristic of this disease. Detection of sulfatides can be accomplished by using urine-soaked filter paper, a collection method used for mass screening of other diseases. Sulfatides from filter papers can be extracted and quantified by Continuous Flow-Fast Atom Bombardment- Mass Spectrometry and potentially, by electrospray/MS/MS. The Phase I grant will develop the process of extraction and quantification so that mass screening will be feasible. Three steps are planned: 1. Optimize conditions of the extraction of sulfatide and creatinine from urine-soaked filter papers. 2.Optimize conditions for the analysis of sulfatide by mass spectrometry. 3.Interface and automate the extraction and mass spectrometry methods. Phase II will involve screening of 75,000 specimens already collected and available. Phase III will screen 500,000 samples a year at specific sites. Introduction into several state departments of health procedures for screening will follow in the ensuing years, with payment derived from third party providers and state revenues.