Abstract: Organic acidemias，the common type of inherited metabolic disorders，are a group of serious and rare diseases. Among them，methylmalonic acidemia，propionic acidemia，and isovaleric acidemia are three classic organic acidemias. With the wide application of blood amino acids and acylcarnitines，urine organic acids and gene analysis，an increasing number of patients with organic acidemias have been diagnosed and treated. The accumulation of toxic organic acids in patients with organic acidemias can affect the urea cycle and tricarboxylic acid cycle，which may lead to hyperammonemia and metabolic disturbances in both acute and chronic phases，causing brain damage and multiple organ damage with high rates of disability and mortality. L-carnitine，carboglutamate， cobalamin and nutritional intervention are the key to treatment. In order to further standardize the diagnosis，treatment，and prevention of hyperammonemia and metabolic crises caused by organic acidemias，the experts in neonatology，critical care，endocrine metabolism，nutrition，neurology，rehabilitation，pharmacy and genetics have a discussion and formulate an expert consensus of diagnosis and treatment on the hot issues concerning screening，diagnosis，treatment，genetic counseling，and prenatal diagnosis based on domestic and foreign clinical evidence and practical experience.

Key words: organic acidemia, methylmalonic acidemia, propionic acidemia, isovaleric acidemia, hyperammonemia

摘要： 有机酸血症是一类严重的罕见病，是遗传代谢病中较常见的类型，甲基丙二酸血症、丙酸血症和异戊酸血症是三种经典的有机酸血症。随着血氨基酸及酰基肉碱、尿有机酸和基因分析技术的广泛应用，越来越多的有机酸血症患者得以诊断与治疗。有机酸血症患者体内毒性有机酸代谢产物堆积，影响尿素循环和三羧酸循环，在急性期和慢性期均可能导致高氨血症和代谢紊乱，造成脑损害及多器官损害，致残及致死率很高。左卡尼汀、卡谷氨酸、钴胺素及营养干预是治疗的关键。为进一步规范有机酸血症导致高氨血症和代谢危象的诊断、治疗与预防，新生儿、重症医学、内分泌、代谢、营养、神经、康复、药学及遗传学专家进行讨论，基于国内外临床证据，结合实践经验，围绕筛查、诊断、治疗、遗传咨询及产前诊断等方面的焦点问题形成诊疗专家共识。

关键词: 有机酸血症, 甲基丙二酸血症, 丙酸血症, 异戊酸血症, 高氨血症