本文選題：全羧化酶合成酶缺乏癥　切入點：HCS基因　出處：《臨床兒科雜志》2017年08期 　論文類型：期刊論文

【摘要】：目的探討全羧化酶合成酶缺乏癥的臨床及基因診斷。方法回顧分析1例罕見的全羧化酶合成酶缺乏癥患兒的臨床及基因資料。結(jié)果男性患兒,出生后即發(fā)育落后,3月齡開始接受康復(fù)治療;5月齡因反復(fù)呼吸道感染查尿有機酸譜,3-羥基丙酸、丙酮酸、3-甲基巴豆酰甘氨酸、甲基巴豆酰甘氨酸濃度增高,血氨基酸及肉堿譜、3-羥基異戊酰肉堿顯著增高,伴游離肉堿降低;基因分析證實HCS基因外顯子區(qū)域存在c.1648GA、c.1544GA雜合突變,確診為全羧化酶合成酶缺乏癥。其中,c.1544GA為新生突變。經(jīng)口服生物素、左卡尼汀治療后,患兒病情逐漸好轉(zhuǎn)。隨訪至8月齡,智力運動發(fā)育明顯進步。結(jié)論全羧化酶合成酶缺乏癥臨床起病緩慢,癥狀隱匿,可通過代謝篩查及HCS基因分析確診。
[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.
【作者單位】： 河南中醫(yī)藥大學(xué)第一附屬醫(yī)院;北京大學(xué)第一醫(yī)院;
【基金】：“十二五”國家科技支撐計劃課題(No.2012BAl09804)
【分類號】：R725.8
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本文編號：1572564