罕见病研究:HLCS基因突变致全羧化酶合成酶缺乏症
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics（2023）
Abstract
男性患儿,16月龄,因发现头面部红斑15个月,外阴红斑10个月,加重5 d就诊.患儿新生儿期即出现口周、眼周红斑,婴儿期出现颈部、腋下、外阴三角区等腔口和皱褶部位的红斑、丘疹,可见脱屑和糜烂.血气分析提示代谢性酸中毒,血遗传代谢病氨基酸和酰基肉碱谱分析、尿液有机酸分析结果均提示多种羧化酶缺乏症,基因检测结果提示HLCS基因存在c.1522C>T(p.R508W)纯合突变.最终该患儿诊断为全羧化酶合成酶缺乏症,口服生物素治疗取得良好的临床疗效.该文总结了1例全羧化酶合成酶缺乏症患儿的临床资料,对其病因、诊断、治疗进行归纳总结,为临床医生诊断该类罕见疾病提供思路.
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Key words
Biotinidase deficiency,Child,HLCS gene,Holocarboxylase synthetase deficiency,Multiple carboxylase deficiency
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