Objective To investigate the clinical, biochemical and genetic features of a Chinese boy with holocarboxylase synthetase 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. At 3 months old, the boy was started with rehabilitation. Tandem mass spectrum and gas chromatography analysis was carried in the 5th month after birth because of the recurrent upper respiratory tract infection and elevated level of C5-OH in the blood and decreased level of C0,and elevated level of 3-OH-propionic, pyruvic acid, methylcrotonylglycine in the urine were in accordance with the HCSD. Genetic analysis found compound heterozygous mutations of c.1648G>A and c.1544G>A in gene, of which the latter one is novel. After the treatment of biotin (20 mg/d) and L-Carnitine, the condition of this boy was gradually improved. Conclutions HCSD is characterized with slow onset and inconspicuous 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 solid foundation for prenatal diagnosis and early treatment.%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.
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