CLINICAL INVESTIGATION OF PATIENTS WITH INBORN ERRORS OF METABOLISM

该方案的研究目标是：1)确定和表征以前未识别的先天缺陷；2)描绘已知先天缺陷的独特临床或遗传变异；3)开发治疗先天缺陷的合理的创新方法；4)识别和表征先天缺陷已确立的和新的治疗方案的临床和化学后果。这些目标背后的概念是，急性代谢性脑病或更慢性或进展缓慢的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临床化学成分进行分类以进行系统研究。我们假设，这样的基线临床评估和分类将能够识别潜在的新疾病患者，并有助于识别已确定的先天错误患者，在这些患者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.