CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

点击翻译按钮获取中文摘要

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.