中国当代医药2024，Vol.31Issue(1)：146-149,154,5.
视神经脊髓炎样表现的生物素酶缺乏症1例
A case of biotinidase deficiency with neuromyelitis optica-like manifesta-tions
刘玲文 1魏红芳 1吕海燕 1张永琴 1代彩娟 1张亚琼 1陈永前1
作者信息
- 1. 兰州大学第二医院甘肃省儿童医院小儿神经科,甘肃兰州 730030
- 折叠
摘要
Abstract
Biotinidase deficiency(BTD)is an autosomal recessive disease.It is caused by the biotinidase gene mutation en-coding biotinidase,which causes the complete or partial deficiency of biotinidase activity,resulting in the decrease of biotin,the decrease of the activity of various biotin-dependent carboxylases,the disorder of mitochondrial energy synthesis,metabolic acidosis,organic aciduria and a series of neurological and skin system damage.The clinical manifestations of this disease are complex,individual differences are very large,which can easily lead to missed diagnosis and misdiagnosis.One 11-year-old male patient was admitted to Gansu Children's Hospital,Lanzhou University Second Hospital.The main symp-toms were weakness of both upper limbs and spastic paralysis of both lower limbs,and decreased vision.The patient was initially diagnosed as a disease of optic neuromyelitis pedigree,but the effect of immunotherapy was not good.After blood and urine genetic metabolic disease screening and gene testing,the patient was finally diagnosed as biotinidase deficiency,and the symptoms of the patient were relieved after supplementation of biotinidase.Biotinidase deficiency often leads to se-rious nervous system damage,and biotin supplementation therapy can play a good role.Therefore,early screening and early diagnosis and treatment of this disease is the key to improve the prognosis.关键词
生物素酶缺乏/视神经脊髓炎谱系疾病/遗传代谢病筛查/基因检测Key words
Biotinidase deficiency/Neuromyelitis optica spectrum disorders/Screening of the inherited metabolic disease/Genetic diagnosis分类
医药卫生引用本文复制引用
刘玲文,魏红芳,吕海燕,张永琴,代彩娟,张亚琼,陈永前..视神经脊髓炎样表现的生物素酶缺乏症1例[J].中国当代医药,2024,31(1):146-149,154,5.
