中国实用儿科杂志2025，Vol.40Issue(5)：353-360,8.DOI:10.19538/j.ek2025050601
有机酸血症导致高氨血症和代谢危象防治专家共识
Expert consensus on prevention and treatment of hyperammonemia and metabolic crisis caused by organic acidemias
摘要
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.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Key words
organic acidemia/methylmalonic acidemia/propionic acidemia/isovaleric acidemia/hyperammonemia分类
临床医学引用本文复制引用
中国妇幼保健协会儿童药食同源代谢干预专业委员会,中国妇幼保健协会出生缺陷防治与分子遗传分会,北京医学会罕见病分会,杨艳玲,邱文娟,杨茹莱..有机酸血症导致高氨血症和代谢危象防治专家共识[J].中国实用儿科杂志,2025,40(5):353-360,8.基金项目
国家重点研发计划项目(2022YFC2703401) （2022YFC2703401）
上海交通大学医学院附属新华医院学科攀峰计划(XKPF202413100) （XKPF202413100）
