CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

先天性氨基酸代谢缺陷在个别情况下很罕见，但在儿科人群中是死亡和发病的重要原因。 这些疾病的最全面的信息来源列出了100多种已知的氨基酸代谢紊乱。 然而，每一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。

Inborn errors of amino acid 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 100 known disorders of amino acid metabolism. Hoever, the rarity of each individual disorder has hempered 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.