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

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。

Abstract:

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.439-2A > G and c.958A > G (p.K320E), 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.