NEUROBEHAVIORAL STUDIES OF CHILDREN WITH INBORN ERRORS OF METABOLISM

这个项目的目的是研究行为的发展 先天性代谢缺陷儿童的语言能力。 一个主要重点 将用于患有半乳糖血症、枫糖浆尿病的患者， 有机酸血症，但全谱儿童代谢疾病 将被研究。 每名患者将被定义为完全来自代谢 在目前的方法允许的情况下。 如果可行，治疗 干预措施将允许在治疗前后进行研究。 每个患者 将在神经核心和磁共振成像研究 大脑 行为研究将侧重于认知发展和 语言的习得 这项研究的另一个目标是继续 监测进入中心其他研究的婴儿和儿童 是否存在代谢疾病。 这将由 研究尿液与电池的筛选测试，以及 氨基酸和有机酸的定量分析。

It is the objective of this project to study the development of behavior and language in children with inborn errors of metabolism. A major focus will be on patients with galactosemia, maple syrup urine disease, and organic acidemia, but a full spectrum of children with metabolic disease will be studied. Each patient will be defined as fully from the metabolic point of view as current methodology permits. Where available, therapeutic interventions will permit studies before and after therapy. Each patient will be studied in the Neurologic Core and by magnetic resonance imaging of the brain. Behavioral studies will focus on cognitive development and the acquisition of language. Another goal of this research will be to continue to monitor infants and children entered into other studies in the Center for the presence of metabolic disease. This will be accomplished by the study of the urine with a battery of screening tests, as well as quantitative analysis of amino acids and organic acids.