3-羟基异丁酰辅酶A水解酶缺乏症一例诊治体会并文献复习  

Diagnosis and treatment of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a case report and literature review

作　　者：杨海燕[1] 吴丽文[1] 邓小鹿[1] 尹飞[1] 杨丽芬[1] YANG Hai-Yan;WU Li-Wen;DENG Xiao-Lu;YIN Fei;YANG Li-Fen(Department of Pediatric Neurology,Xiangya Hospital,Central South University,Changsha 410008,China)

机构地区：[1]中南大学湘雅医院小儿神经专科,湖南长沙410008

出　　处：《中国当代儿科杂志》2018年第8期647-651,共5页Chinese Journal of Contemporary Pediatrics

基　　金：国家自然科学基金(81671297)

摘　　要：报道一例3-羟基异丁酰辅酶A水解酶缺乏症,并结合文献,探讨其临床特征、基因突变特点和诊疗现状。患儿,男,1岁6个月,发热、腹泻后出现发育倒退、阵发性肌张力不全等症状;头部MRI提示双侧基底节对称性病变。线粒体基因组全长检测未发现致病突变。线粒体相关疾病核基因检测发现患儿HIBCH基因新发复合杂合突变:c.439-2A>G和c.958A>G(p.K320E),分别遗传自其父母。予以患儿"鸡尾酒疗法"、限制缬氨酸饮食及对症治疗,2周后患儿肌张力不全症状改善,运动以及智能较前缓慢进步。A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia after pyrexia and diarrhea, and head MRI showed symmetrical lesions in the bilateral basal ganglia. No pathogenic mutation was found in the full-length detection of mitochondrial genome. Nuclear gene detection of mitochondrial-related diseases found new compound heterozygous mutations in the HIBCH gene, i.e., c.439-2〉 AG and c.958 A〉G（p.K320 E）, which were inherited from his father and mother, respectively. The boy was given cocktail therapy, dietary valine restriction, and symptomatic treatment. After 2 weeks of treatment, there were improvements in dystonia and motor and intellectual development.

关 键 词：HIBCH基因 3-羟基异丁酰辅酶A水解酶缺乏症 LEIGH病 儿童 

分 类 号：R725.9[医药卫生—儿科]