碳酸酐酶VA缺乏症的诊治进展  

Advances in the diagnosis and treatment of carbonic anhydrase VA deficiency

作　　者：吴静[1] 陈哲晖 宋金青[1] 金颖[1] 李梦秋 张尧[1] 张静[2] 杨艳玲[1] Wu Jing;Chen Zhehui;Song Jinqing;Jin Ying;Li Mengqiu;Zhang Yao;Zhang Jing;Yang Yanling(Department of Pediatrics,Peking University First Hospital;Department of Pediatrics,First Affiliated Hospital of Zhengzhou University)

机构地区：[1]北京大学第一医院儿科,北京100034 [2]郑州大学第一附属医院儿科,郑州450052

出　　处：《重庆医科大学学报》2022年第3期296-299,共4页Journal of Chongqing Medical University

基　　金：国家重点研发计划资助项目(编号:2019YFC1005100)。

摘　　要：线粒体碳酸酐酶VA缺乏症是一种罕见的遗传代谢病,为常染色体隐性遗传病,已报道的患儿在生后第1天至儿童早期(最迟4岁)发病,导致高氨血症脑病,并干扰多种线粒体酶活性,导致糖异生及有氧氧化障碍、支链氨基酸分解与尿素循环障碍。编码人类线粒体碳酸酐酶VA的基因CA5A于1993年被克隆,定位于16q24.3区域,但直至2014年van Karnebeek等才报道了首例由碳酸酐酶VA缺陷导致的人类疾病。迄今报道不足30例,在南亚地区报道较多,全球发病率不详。Mitochondrial carbonic anhydrase VA deficiency is a rare autosomal recessive disease that can lead to hyperammoniacal encephalopathy. The reported cases had the onset of hyperammoniacal encephalopathy from newborn period(the first day of life) to early childhood(up to the age of 4 years). It would interfere with the activities of a variety of mitochondrial enzymes and result in gluconeogenesis and aerobic oxidation disorders,branched chain amino acids catabolism and urea cycle disorders. Human mitochondrial carbonic anhydrase VA gene CA5A was originally cloned and located in 16q24.3 region in 1993,but the first case of disease caused by carbonic anhydrase VA deficiency was reported in 2014 by van Karnebeek et al. So far,only less than 30 cases have been reported world-wide,among which mostly described patients came from the South Asia,and the global incidence is unknown.

关 键 词：碳酸酐酶VA 高氨血症 尿素循环障碍 

分 类 号：R72[医药卫生—儿科]