CLINICAL STUDIES OF INBORN ERRORS OF METABOLISM

氨基酸代谢的先天性错误是个别罕见的， 这些因素共同构成了非洲大陆死亡和发病的重要原因， 儿科人群。 最全面的信息来源， 这些病症列出了超过100种已知的氨基酸代谢病症。 然而，每一种疾病的罕见性都限制了我们的研究。 了解这些疾病。 事实上，许多疾病是 被定义为少于100个已发表的案例。 它们的稀有性意味着 每个病人都应该以这样的方式进行评估，我们不仅要满足 患者的医疗需求，而且还进一步划定和了解 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.