CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

该子项目是利用NIH/NCRR资助的中心赠款提供的资源的许多研究子项目之一。子项目和研究者（PI）可能从另一个NIH来源获得主要资金，因此可以在其他CRISP条目中表示。所列机构为中心机构，不一定为研究者机构。先天性代谢缺陷在个体上是罕见的，但总体上代表了儿科人群死亡率和发病率的重要原因。这些疾病的最全面的信息来源列出了1000多种已知的代谢疾病。然而，每种疾病的罕见性阻碍了我们对这些疾病的理解。事实上，许多疾病是由不到100个已发表的病例定义的。它们非常罕见，这意味着我们应该以这样的方式对每个患者进行评估，即我们不仅要满足患者的医疗需求，还要进一步描述和了解这些疾病的自然史。

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.