Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study

LI Ke-Yao; TANG Jian-Ping; JIANG Yan-Ling; YUE Shu-Zhen; ZHOU Bin; WEN Rong; HOU Ze-Tao; WEI Zhu

doi:10.7499/j.issn.1008-8830.2211062

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Chinese Journal of Contemporary Pediatrics ›› 2023, Vol. 25 ›› Issue (4) : 401-406. DOI: 10.7499/j.issn.1008-8830.2211062

RARE DISEASE RESEARCH

Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study

LI Ke-Yao, TANG Jian-Ping, JIANG Yan-Ling, YUE Shu-Zhen, ZHOU Bin, WEN Rong, HOU Ze-Tao, WEI Zhu

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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

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LI Ke-Yao, TANG Jian-Ping, JIANG Yan-Ling, YUE Shu-Zhen, ZHOU Bin, WEN Rong, HOU Ze-Tao, WEI Zhu. Holocarboxylase synthetase deficiency induced by HLCS gene mutations: a rare disease study[J]. Chinese Journal of Contemporary Pediatrics. 2023, 25(4): 401-406 https://doi.org/10.7499/j.issn.1008-8830.2211062

References

1 Cadieux-Dion M, Gannon J, Newell B, et al. Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings[J]. Pediatr Dermatol, 2021, 38(3): 655-658. PMID: 33870574. DOI: 10.1111/pde.14586.
2 古霞, 郝虎, 蔡尧, 等. 全羧化酶合成酶缺乏症临床特点和基因突变分析[J]. 中山大学学报(医学版), 2018, 39(5): 682-686. DOI: 10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).2018.0093.
3 Dupuis L, Leon-Del-Rio A, Leclerc D, et al. Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency[J]. Hum Mol Genet, 1996, 5(7): 1011-1016. PMID: 8817339. DOI: 10.1093/hmg/5.7.1011.
4 Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424. PMID: 25741868. PMCID: PMC4544753. DOI: 10.1038/gim.2015.30.
5 李珂瑶, 汤建萍, 树叶, 等. 11岁女孩反复全身散在皮疹10年[J]. 中国当代儿科杂志, 2022, 24(9): 1047-1052. PMID: 36111725. PMCID: PMC9495228. DOI: 10.7499/j.issn.1008-8830.2204123.
6 Spodenkiewicz M, Spodenkiewicz M, Cleary M, et al. Clinical genetics of prolidase deficiency: an updated review[J]. Biology (Basel), 2020, 9(5): 108. PMID: 32455636. PMCID: PMC7285180. DOI: 10.3390/biology9050108.
7 Alrumayyan N, Slauenwhite D, McAlpine SM, et al. Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins[J]. Allergy Asthma Clin Immunol, 2022, 18(1): 17. PMID: 35197125. PMCID: PMC8867623. DOI: 10.1186/s13223-022-00658-2.
8 陶一叶. 家族性良性慢性天疱疮的治疗进展[J]. 皮肤病与性病, 2020, 42(4): 491-493. DOI: 10.3969/j.issn.1002-1310.2020.04.010.
9 中国体癣和股癣诊疗指南工作组. 中国体癣和股癣诊疗指南(基层实践版2022)[J]. 中国真菌学杂志, 2022, 17(3): 177-182. DOI: 10.3969/j.issn.1673-3827.2022.03.001.
10 李伟, 郑敏. 反向银屑病的诊治进展[J]. 皮肤科学通报, 2020, 37(5): 491-495.
11 叶雯霞, 段志敏, 刘彩霞, 等. 慢性皮肤黏膜念珠菌病免疫发病机制进展[J]. 中华皮肤科杂志, 2017, 50(8): 618-620. DOI: 10.3760/cma.j.issn.0412-4030.2017.08.021.
12 Pan C, Zhao A, Li M. Atopic dermatitis-like genodermatosis: disease diagnosis and management[J]. Diagnostics (Basel), 2022, 12(9): 2177. PMID: 36140582. PMCID: PMC9498295. DOI: 10.3390/diagnostics12092177.
13 Wu HR, Chen KJ, Hsiao HP, et al. Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review[J]. J Pediatr Endocrinol Metab, 2020, 33(11): 1481-1486. PMID: 32841162. DOI: 10.1515/jpem-2020-0106.
14 Zheng Z, Yuan G, Zheng M, et al. Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report[J]. BMC Med Genet, 2020, 21(1): 155. PMID: 32727382. PMCID: PMC7388215. DOI: 10.1186/s12881-020-01080-4.
15 Xiong Z, Zhang G, Luo X, et al. Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients[J]. Medicine (Baltimore), 2020, 99(18): e19964. PMID: 32358368. PMCID: PMC7440356. DOI: 10.1097/MD.0000000000019964.
16 Wolf B. Revisiting the administration of biotin to children with biotin-responsive disorders[J]. Mol Genet Metab, 2022, 137(1-2): 225-227. PMID: 35843775. DOI: 10.1016/j.ymgme.2022.07.004.
17 Arbuckle HA, Morelli J. Holocarboxylase synthetase deficiency presenting as ichthyosis[J]. Pediatr Dermatol, 2006, 23(2): 142-144. PMID: 16650223. DOI: 10.1111/j.1525-1470.2006.00200.x.
18 中华医学会医学遗传学分会生化与代谢学组, 中国妇幼保健协会儿童疾病与保健分会遗传代谢学组, 北京医学会罕见病分会遗传代谢病学组. 多羧化酶缺乏症筛诊治专家共识[J]. 浙江大学学报(医学版), 2022, 51(1): 129-135. PMID: 35576117. PMCID: PMC9109762. DOI: 10.3724/zdxbyxb-2022-0164.
19 陈子衿, 谢诚, 艾涛. 全羧化酶合成酶缺乏症研究进展[J]. 四川医学, 2020, 41(12): 1303-1307. DOI: 10.16252/j.cnki.issn1004-0501-2020.12.019.