Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, Houston, TX, USA.
Mol Genet Metab. 2012 Jan;105(1):26-33. doi: 10.1016/j.ymgme.2011.08.034. Epub 2011 Sep 10.
Propionic acidemia is a relatively rare inborn error of metabolism. Individuals with propionic acidemia often have life-threatening episodes of hyperammonemia and metabolic acidosis, as well as intellectual disability. There are many reports of additional problems, including poor growth, stroke-like episodes of the basal ganglia, seizures, cardiomyopathy, long QTc syndrome, immune defects, pancreatitis and optic neuropathy; however, there is little information about the incidence of these problems in this rare disease. Additionally, there are no clear guidelines for medical or surgical management of individuals with propionic acidemia. Through a comprehensive and systematic review of the current medical literature and survey of expert opinion, we have developed practice guidelines for the chronic management of individuals with propionic acidemia, including dietary therapy, use of medications, laboratory monitoring, chronic health supervision, use of gastrostomy tubes and liver transplantation.
丙酸血症是一种相对罕见的先天性代谢缺陷。丙酸血症患者常发生危及生命的高氨血症和代谢性酸中毒，以及智力障碍。还有许多关于其他问题的报告，包括生长不良、基底节类似中风样发作、癫痫、心肌病、长 QT 综合征、免疫缺陷、胰腺炎和视神经病变；然而，在这种罕见疾病中，关于这些问题的发病率的信息很少。此外，对于丙酸血症患者，没有明确的医疗或手术管理指南。通过对当前医学文献的全面系统回顾和专家意见调查，我们制定了丙酸血症患者慢性管理的实践指南，包括饮食疗法、药物使用、实验室监测、慢性健康监督、胃造口管和肝移植的使用。
