全羧化酶合成酶缺乏症1例临床及基因分析

发布时间：2018-03-06 00:25

  本文选题：全羧化酶合成酶缺乏症　切入点：HCS基因　出处：《临床儿科杂志》2017年08期 　论文类型：期刊论文

【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.1648GA、c.1544GA杂合突变,确诊为全羧化酶合成酶缺乏症。其中,c.1544GA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。
[Abstract]:Objective to investigate the clinical and genetic diagnosis of total carboxylase synthase deficiency. At the age of 3 months after birth, patients with developmental retardation began to receive rehabilitation treatment at the age of 5 months. The concentrations of 3-hydroxypropionic acid, pyruvate 3-methyl-crotonyl glycine and methylsuccinyl glycine were increased in 5 months of age due to repeated respiratory tract infection. The serum amino acids and carnitine spectra of 3-hydroxyisoamylcarnitine increased significantly, and the accompanying carnitine decreased. Gene analysis confirmed that there was a heterozygous mutation in the exon region of HCS gene, c. 1648 GAN c. 1544GA. It was diagnosed as a total carboxylase synthase deficiency, in which c. 1544GA was a new mutation. After oral administration of biotin and levacarnitine, the condition of the child gradually improved. Conclusion Total carboxylase synthase deficiency can be diagnosed by metabolic screening and HCS gene analysis.
【作者单位】： 河南中医药大学第一附属医院;北京大学第一医院;
【基金】：“十二五”国家科技支撑计划课题(No.2012BAl09804)
【分类号】：R725.8
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本文编号：1572564