CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

与生俱来的氨基酸代谢错误是很少见的，但 共同代表了#年死亡和发病的重要原因。 儿科人口。最全面的信息源 这些疾病列出了100多种已知的氨基酸代谢障碍。 然而，每一种疾病的罕见都困扰着我们 对这些疾病的了解。事实上，许多疾病都是 由不到100个已发表的案例定义。它们的稀有性意味着 应该以这样一种方式对每个患者进行评估，即我们不仅满足 对患者的医疗需求，还要进一步勾画和了解 这些疾病的自然病史。

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.