Division of Metabolism, University Children's Hospital Zurich, Zurich, Switzerland.
Metabolic Medicine Department, Great Ormond Street Hospital, Institute of Child Health University College London, NIHR Biomedical Center (BRC), London, UK.
J Mother Child. 2020 Nov 10;24(2):9-13. doi: 10.34763/jmotherandchild.20202402si.2014.000003.
Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years better understanding of the disease and its presentation, earlier diagnosis, and most importantly advances in treatment have resulted in extended survival of patients. With that an expanding spectrum of complications is emerging which requires attention and regular monitoring to facilitate early intervention and reduce disease burden.
孤立性甲基丙二酸血症是丙酸代谢物先天性异常的一组异质性遗传疾病，其组织和体液中存在高甲基丙二酸是其共同的生化特征。它于 20 世纪 60 年代首次被描述，随着对该疾病及其表现、早期诊断的认识不断提高，尤其是治疗方面的进展，患者的生存时间得以延长。随着一系列不断扩大的并发症的出现，需要对其进行关注和定期监测，以便及时进行干预，减轻疾病负担。
