全羧化酶合成酶缺乏症1例临床及基因分析  

The clinical and genetic features of holocarboxylase synthetase deficiency in a male patient

作　　者：郑宏[1] 卢婷婷[1] 陆相朋 李东晓[2] 马丙祥[1] 杨艳玲[2] ZHENG Hong;LU Tingting;LU Xiangpeng;LI Dongxiao;MA Bingxiang;YANG Yanling(Department of Pediatrics,The First Affiliated Hospital of Henan University of TCM, Zhengzhou 450000, Henan,China;Department of Pediatrics,Peking University First Hosoital, Beijing 100034, China)

机构地区：[1]河南中医药大学第一附属医院,河南郑州450000 [2]北京大学第一医院,北京100034

出　　处：《临床儿科杂志》2017年第8期605-608,共4页Journal of Clinical Pediatrics

基　　金："十二五"国家科技支撑计划课题(No.2012BAl09804)

摘　　要：目的探讨全羧化酶合成酶缺乏症的临床及基因诊断。方法回顾分析1例罕见的全羧化酶合成酶缺乏症患儿的临床及基因资料。结果男性患儿,出生后即发育落后,3月龄开始接受康复治疗;5月龄因反复呼吸道感染查尿有机酸谱,3-羟基丙酸、丙酮酸、3-甲基巴豆酰甘氨酸、甲基巴豆酰甘氨酸浓度增高,血氨基酸及肉碱谱、3-羟基异戊酰肉碱显著增高,伴游离肉碱降低;基因分析证实HCS基因外显子区域存在c.1648G>A、c.1544G>A杂合突变,确诊为全羧化酶合成酶缺乏症。其中,c.1544G>A为新生突变。经口服生物素、左卡尼汀治疗后,患儿病情逐渐好转。随访至8月龄,智力运动发育明显进步。结论全羧化酶合成酶缺乏症临床起病缓慢,症状隐匿,可通过代谢筛查及HCS基因分析确诊。Objective To investigate the clinical,biochemical and genetic features of a Chinese boy with holocarboxylasesynthetase deficiency(HCSD).Methods The clinical and genetic data of a rare case of HCSD were retrospectively analyzed.Results After birth,the boy showed development delay.At3months old,the boy was started with rehabilitation.Tandem massspectrum and gas chromatography analysis was carried in the5th month after birth because of the recurrent upper respiratory tractinfection and elevated level of C5-OH in the blood and decreased level of C0,and elevated level of3-OH-propionic,pyruvicacid,methylcrotonylglycine in the urine were in accordance with the HCSD.Genetic analysis found compound heterozygousmutations of c.1648G>A and c.1544G>A in gene,of which the latter one is novel.After the treatment of biotin(20mg/d)andL-Carnitine,the condition of this boy was gradually improved.Conclutions HCSD is characterized with slow onset andinconspicuous manifestations.The confirmed diagnosis can be built with MS/MS,GC/MS analysis and gene mutation analysis.The effect of early biotin treatment is satisfactory.In this study,we carried out clinical and genetic diagnosis,which lays a solidfoundation for prenatal diagnosis and early treatment.

关 键 词：全羧化酶合成酶缺乏症 HCS基因 遗传代谢病 

分 类 号：R725.8[医药卫生—儿科]