CLINICAL INVESTIGATION OF PATIENTS WITH INBORN ERRORS OF METABOLISM

本方案的研究目的是：1）确定和表征先前未识别的先天性缺陷; 2）描述已知先天性缺陷的不同临床或遗传变异; 3）开发先天性缺陷的创新合理治疗方法; 4）识别和表征先天性缺陷中已建立和新型治疗方案的临床和化学后果。这些目标的基础是这样一个概念，即急性代谢性脑病，或更慢性或缓慢进行性脑病的患者，可以通过不同的临床表现模式来识别，并可以根据精心选择的一系列临床化学进行分类，以进行系统研究。 我们假设，这种基线临床评价和分类将能够识别潜在的新疾病患者，并用于识别具有确定的先天性缺陷的患者，其中可以表征不同的临床，生化或分子变异。

The investigational aims of this protocol are: 1) to ascertain and characterize previously unidentified inborn errors; 2) to delineate distinct clinical or genetic variants of known inborn errors; 3) to develop innovative rational therapeutic approaches in inborn errors; 4) to identify and characterize the clinical and chemical consequences of established and novel treatment protocols in inborn errors. Underlying these objectives is the notion that patients with acute metabolic encephalopathy, or more chronic or slowly progressive encephalopathies, can be recognized by distinct patterns of clinical presentations, and can be categorized for systematic study on the basis of a carefully chosen battery of clinical chemistries. We hypothesize that such baseline clinical evaluations and categorizations will enable the identification of patients with potential new disorders, and serve to identify patients with established inborn errors in whom distinct clinical, biochemical or molecular variants can be characterized.