罕见病研究：<italic>HLCS</italic>基因突变致全羧化酶合成酶缺乏症

doi:10.7499/j.issn.1008-8830.2211062

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摘要男性患儿，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。中国当代儿科杂志，2023，25（4）：401-406］

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	李珂瑶
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关键词 ：多种羧化酶缺乏症, 全羧化酶合成酶缺乏症, 生物素酶缺乏症, HLCS基因, 儿童

Abstract：A boy, aged 16 months, attended the hospital due to head and facial erythema for 15 months and vulva erythema for 10 months with aggravation for 5 days. The boy developed perioral and periocular erythema in the neonatal period and had erythema and papules with desquamation and erosion in the neck, armpit, and trigone of vulva in infancy. Blood gas analysis showed metabolic acidosis; the analysis of amino acid and acylcarnitine profiles for inherited metabolic diseases and the analysis of organic acid in urine suggested multiple carboxylase deficiency; genetic testing showed a homozygous mutation of c.1522C>T(p.R508W) in the HLCS gene. Finally the boy was diagnosed with holocarboxylase synthetase deficiency and achieved a good clinical outcome after oral biotin treatment. This article analyzes the clinical data of a child with holocarboxylase synthetase deficiency and summarizes the etiology, diagnosis, and treatment of this child, so as to provide ideas for clinicians to diagnose this rare disease.

Key words： Multiple carboxylase deficiency Holocarboxylase synthetase deficiency Biotinidase deficiency HLCS gene Child

收稿日期: 2022-11-11

通讯作者: 韦祝，女，主任医师。Email：34438881@qq.com。 E-mail: 34438881@qq.com

作者简介: 李珂瑶，女，博士，主治医师；

引用本文:

李珂瑶,汤建萍,蒋艳玲等. 罕见病研究：HLCS基因突变致全羧化酶合成酶缺乏症[J]. 中国当代儿科杂志, 2023, 25(4): 401-406.

LI Ke-Yao,TANG Jian-Ping,JIANG Yan-Ling et al. Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study[J]. CJCP, 2023, 25(4): 401-406.

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