CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

这个子项目是利用由NIH/NCRR资助的中心拨款提供的资源的许多研究子项目之一。子项目和调查员(PI)可能从另一个NIH来源获得了主要资金，因此可能会出现在其他CRISE条目中。列出的机构是针对中心的，而不一定是针对调查员的机构。先天代谢性疾病个别情况下很少见，但在儿科人群中，它们共同构成死亡和发病的重要原因。关于这些疾病的最全面的信息来源列出了1000多种已知的新陈代谢疾病。然而，每一种疾病的罕见都阻碍了我们对这些疾病的理解。事实上，许多疾病的定义是由不到100个已发表的病例来定义的。它们非常罕见，这意味着我们应该以这样一种方式来评估每一位患者，即我们不仅要满足患者的医疗需求，而且要进一步描绘和了解这些疾病的自然历史。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Inborn errors of metabolism are individually rare but collectively represent significant causes of mortality and morbidity in the Pediatric population. The most comprehensive information source for these disorders list over 1000 known disorders of metabolism. However, the rarity of each individual disorder has hampered our understanding of these diseases. Indeed, many of the disorders are defined by fewer than 100 published cases. Their very rarity means that each patient should be evaluated in such a way that we not only meet the medical needs of the patient, but also further delineate and understand the natural history of these diseases.