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[Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review].[线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症：一例报告及文献复习]
Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):930-933. doi: 10.7499/j.issn.1008-8830.2018.11.010.
2
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6
Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.线粒体 3-羟基-3-甲基戊二酰辅酶 A 合酶缺乏症的严重临床表现与两种新突变相关：病例报告。
BMC Pediatr. 2019 Oct 9;19(1):344. doi: 10.1186/s12887-019-1747-5.

本文引用的文献

1
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.人线粒体 HMG-CoA 合酶缺乏症：酶二聚化表面的作用及三例新患者的特征。
Int J Mol Sci. 2018 Mar 28;19(4):1010. doi: 10.3390/ijms19041010.
2
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症：独特的实验室检查结果及生化与临床特征综述
JIMD Rep. 2018;40:63-69. doi: 10.1007/8904_2017_59. Epub 2017 Oct 14.
3
Involvement of nutrients and nutritional mediators in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase gene expression.营养素和营养介质在三羟甲基戊二酰辅酶 A 合酶基因表达中的作用。
J Cell Physiol. 2018 Apr;233(4):3306-3314. doi: 10.1002/jcp.26177. Epub 2017 Sep 28.
4
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症：尿有机酸谱及突变谱的扩展
J Inherit Metab Dis. 2015 May;38(3):459-66. doi: 10.1007/s10545-014-9801-9. Epub 2014 Dec 16.
5
Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia.生酮作用可预防饮食诱导的脂肪肝损伤和高血糖。
J Clin Invest. 2014 Dec;124(12):5175-90. doi: 10.1172/JCI76388. Epub 2014 Oct 27.
6
Ketone body metabolism and its defects.酮体代谢及其缺陷。
J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8.
7
New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations.线粒体HMG-CoA合酶缺乏症新病例。八个突变的功能分析。
Eur J Med Genet. 2013 Aug;56(8):411-5. doi: 10.1016/j.ejmg.2013.05.008. Epub 2013 Jun 7.
8
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.鉴定编码人源线粒体 HMG-CoA 裂解酶和 HMG-CoA 合酶（酮体生成途径中的主要酶）的基因剪接变异体。
Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28.
9
Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.人源 HMG-CoA 合酶同工酶的晶体结构为遗传性酮体生成障碍和抑制剂设计提供了线索。
J Mol Biol. 2010 May 14;398(4):497-506. doi: 10.1016/j.jmb.2010.03.034. Epub 2010 Mar 25.
10
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.线粒体HMG-CoA合酶缺乏症诊断的优化
J Inherit Metab Dis. 2006 Feb;29(1):207-11. doi: 10.1007/s10545-006-0214-2.

[线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症：一例报告及文献复习]

[Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review].

作者信息

Ma Dan, Yu Dan

机构信息

Department of Rehabilitation Medicine, West China Second University Hospital of Sichuan University, Chengdu 610041, China.

出版信息

Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):930-933. doi: 10.7499/j.issn.1008-8830.2018.11.010.

DOI:10.7499/j.issn.1008-8830.2018.11.010
PMID:30477625
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7389032/
Abstract

Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency (HMCSD) is caused by HMGCS2 gene mutation. This paper reports the clinical and genetic features of an infant with this disease. The 8-month-old female infant was admitted to the hospital with diarrhea for 1 week and fever and convulsion for 1 day. The child presented with seizures, acidosis, hypoglycemia, abnormal liver function, myocardial injury and coagulation dysfunction. The new homozygous mutation c.1502G>A(p.R501Q) in the HMGCS2 gene was found in the infant by genetic testing. The mutant gene was found to be harmful by bioinformatics software analysis. Urine organic acid analysis indicated that 4-hydroxy-6-methyl-2-pyranone was significantly increased, which was consistent with the results of genetic testing. The infant was definitely diagnosed with HMCSD.

摘要

线粒体3-羟基-3-甲基戊二酰辅酶A合酶缺乏症（HMCSD）由HMGCS2基因突变引起。本文报道了一名患此病婴儿的临床和遗传特征。该8个月大女婴因腹泻1周、发热伴惊厥1天入院。患儿出现惊厥、酸中毒、低血糖、肝功能异常、心肌损伤及凝血功能障碍。通过基因检测在该婴儿中发现了HMGCS2基因新的纯合突变c.1502G>A（p.R501Q）。经生物信息学软件分析，发现该突变基因具有危害性。尿有机酸分析表明4-羟基-6-甲基-2-吡喃酮显著增加，这与基因检测结果一致。该婴儿被明确诊断为HMCSD。