[3-甲基巴豆酰辅酶 A 羧化酶缺乏症儿童的临床和遗传特征:对六个病例的分析]。

Li-Ming Zhang, Sheng-Nan Wu, Ya-Nan Guo, Jian-Wei Yang, Hong-Qi Sun, Jun-Mei Yang, Yong-Xing Chen
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引用次数: 0

摘要

目的研究3-甲基巴豆酰辅酶A羧化酶缺乏症(MCCD)患儿的临床和遗传特征:对2018年1月至2023年10月在郑州大学附属儿童医院就诊的6名MCCD患儿的临床表现和基因检测结果进行回顾性分析:6例MCCD患儿中,男孩4例,女孩2例,就诊时平均年龄7天,确诊时平均年龄45天。在所有患儿中,1名患儿尿液气味异常,5名患儿无临床症状。所有六名患儿的血液中3-羟基异戊酰基肉碱含量、尿液中3-羟基异戊酸含量和3-甲基巴豆酰甘氨酸含量均有所增加,其中五名患儿的游离肉碱含量有所减少。在 MCCC1 基因中总共发现了六个突变,即 c.1630del(p.R544Dfs*2)、c.269A>G(p.D90G)、c.1609T>A(p.F537I)、c.639+2T>A、c.761+1G>T和c.1331G>A(p.R444H),在MCCC2基因中发现了三个突变,即c.838G>T(p.D280Y)、c.592C>T(p.Q198*,366)和c.1342G>A(p.G448A)。在这些突变中,c.269A>G(p.D90G)和c.1609T>A(p.F537I)以前从未在文献中报道过。有一例母源性 MCCD 病例,患儿的母亲携带杂合突变。5名游离肉碱减少的儿童接受了左旋肉碱的补充,在最后一次随访时游离肉碱恢复到了正常水平:本研究发现了两个新的基因突变:c.269A>G(p.D90G) 和 c.1609T>A(p.F537I),从而扩大了 MCCC1 基因的突变范围。将血液氨基酸和酰基肉碱谱、尿液有机酸分析和基因检测结合起来,有助于MCCD的早期诊断和治疗,并为遗传咨询提供重要数据。
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[Clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency: an analysis of six cases].

Objectives: To investigate the clinical and genetic features of children with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD).

Methods: A retrospective analysis was conducted on the clinical manifestations and genetic testing results of six children with MCCD who attended Children's Hospital Affiliated to Zhengzhou University from January 2018 to October 2023.

Results: Among the six children with MCCD, there were 4 boys and 2 girls, with a mean age of 7 days at the time of attending the hospital and 45 days at the time of confirmed diagnosis. Of all children, one had abnormal urine odor and five had no clinical symptoms. All six children had increases in blood 3-hydroxyisovaleryl carnitine and urinary 3-hydroxyisovaleric acid and 3-methylcrotonoylglycine, and five of them had a reduction in free carnitine. A total of six mutations were identified in the MCCC1 gene, i.e., c.1630del(p.R544Dfs*2), c.269A>G(p.D90G), c.1609T>A(p.F537I), c.639+2T>A, c.761+1G>T, and c.1331G>A(p.R444H), and three mutations were identified in the MCCC2 gene, i.e., c.838G>T(p.D280Y), c.592C>T(p.Q198*,366), and c.1342G>A(p.G448A). Among these mutations, c.269A>G(p.D90G) and c.1609T>A(p.F537I) had not been previously reported in the literature. There was one case of maternal MCCD, and the child carried a heterozygous mutation from her mother. Five children with a reduction in free carnitine were given supplementation of L-carnitine, and free carnitine was restored to the normal level at the last follow-up visit.

Conclusions: This study identifies two new mutations, c.269A>G(p.D90G) and c.1609T>A(p.F537I), thereby expanding the mutation spectrum of the MCCC1 gene. A combination of blood amino acid and acylcarnitine profiles, urine organic acid analysis, and genetic testing can facilitate early diagnosis and treatment of MCCD, and provide essential data for genetic counseling.

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来源期刊
中国当代儿科杂志
中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍: The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R;ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.
期刊最新文献
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