CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

氨基酸代谢的先天错误是个别罕见的，但集体代表的死亡率和发病率的重要原因，在儿科人群。这些疾病最全面的信息源列出了超过100种已知的氨基酸代谢疾病。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，许多疾病的定义少于100个已发表的病例。它们非常罕见，这意味着对每个病人的评估不仅要满足病人的医疗需求，还要进一步描绘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.