Multisystem involvement in Chinese patients with neuromyopathic phenotype of mitochondrial trifunctional protein deficiency  

作　　者：Cui-Jie Wei Xing-Zhi Chang Lin Ge Xiao-Na Fu Yan-Bin Fan Jie-Yu Liu Shuang Wang Hai-Li Li Yan-Ling Yang Hui Xiong 

机构地区：[1]Departm ent of Pediatrics,Peking University First Hospital,Beijing 100034,China [2]Department of Ophthalmology,Peking University First Hospital,Beijing 100034,China

出　　处：《Chinese Medical Journal》2020年第11期1358-1360,共3页中华医学杂志（英文版）

基　　金：This work was supported by grants from the National Key Research and Development Program of China(No.2016YFC0901505);the National Natural Science Foundation of China(No.81571220);the Beijing Key Laboratory of Molecular Diagnosis and Study on Pediatric Genetic Diseases(No.Z141107004414036,BZ0317).

摘　　要：Mitochondrial trifunctional protein(MTP)is a multienzyme complex,which catalyzes the last three steps of mitochondrial p-oxidation of the long-chain fatty acids.Structurally,MTP consists of four a-subunits and four P-subunits,which are encoded by HADHA gene(OMIM 600890)and HADHB gene(OMIM 143450),respectively.Mutations in HADHA or HADHB lead to varying degrees of decline in MTP activity,that in turn results in three types of clinical manifestations:a severe phenotype with neonatal onset,a hepatic phenotype with infantile onset,and a neuromyopathic phenotype with later onset.

关 键 词：INVOLVEMENT HEPATIC PATIENTS 

分 类 号：R746[医药卫生—神经病学与精神病学]