Investigations of Methylmalonic Acidemia

这项研究包括遗传性甲基丙二酸血症和钴素缺乏症。这些代谢紊乱在遗传上是不同的，共同代表了有机酸血症的一个重要子集。我们通过翻译方法研究遗传性甲基丙二酸血症和钴缺乏障碍，其中包括对受影响的患者进行临床和代谢评估，并使用动物模型在实验室检查这种疾病。我们已经建立了甲基丙二酸血症的小鼠和蠕虫模型。这项研究的总体目标是定义患者身上出现的并发症，在小鼠或其他生物身上复制发现，并使用组合信息来指导新疗法的开发和测试。

This research study encompasses the hereditary methylmalonic acidemias and cobalmin deficiency disorders. These metabolic disorders are genetically heterogeneous and collectively represent an important subset of the organic acidemias. We study the hereditary methylmalonic acidemias and cobalmin deficiency disorders via a translational approach that includes a clinical and metabolic evaluation of affected patients and use animal models to examine the disorder in the laboratory. We have developed mouse and worm models of methylmalonic acidemia. The general goal of the research is to define the complications seen in the patients, replicate the findings in mice or other organisms and use the combined information to guide the development and testing of new therapies.