Investigations of Methylmalonic Acidemia

本研究包括遗传性甲基丙二酸血症和钴胺缺乏症。这些代谢紊乱在遗传上是异质的，它们共同代表了有机酸中毒的一个重要子集。我们研究遗传性甲基丙二酸血症和钴胺缺乏症通过翻译的方法，包括临床和受影响患者的代谢评估，并使用动物模型在实验室检查疾病。我们已经建立了小鼠和蠕虫的甲基丙二酸血症模型。这项研究的总体目标是确定在患者身上看到的并发症，在小鼠或其他生物体中复制研究结果，并利用综合信息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.