1.三峡大学 健康医学院, 湖北 宜昌, 443000
2.泉州市妇幼保健院(泉州市儿童医院) 儿童保健中心, 福建 泉州, 362000
3.泉州市妇幼保健院(泉州市儿童医院) 新生儿疾病筛查中心, 福建 泉州, 362000
4.三峡大学附属仁和医院 科研科, 湖北 宜昌, 443000
池末珍, E-mail: cmzchina@163.com
收稿:2026-04-25,
修回:2026-05-27,
录用:2026-06-09,
网络首发:2026-07-13,
移动端阅览
苏彩霞, 林卫华, 陈燕茹, 等. 1例父源性3-甲基巴豆酰辅酶A羧化酶缺乏症的家系分析及护理体会[DB/OL].中西医结合临床案例库, 2026.
SU Caixia, LIN Weihua, CHEN Yanru, et al. Pedigree Analysis and Nursing Experience of a Case of Paternally Derived 3-Methylcrotonyl-CoA Carboxylase Deficiency[DB/OL].Clinical Archives of Integrative Medicine, 2026.
苏彩霞, 林卫华, 陈燕茹, 等. 1例父源性3-甲基巴豆酰辅酶A羧化酶缺乏症的家系分析及护理体会[DB/OL].中西医结合临床案例库, 2026. DOI: 10.12209/CAIM202604250004.
SU Caixia, LIN Weihua, CHEN Yanru, et al. Pedigree Analysis and Nursing Experience of a Case of Paternally Derived 3-Methylcrotonyl-CoA Carboxylase Deficiency[DB/OL].Clinical Archives of Integrative Medicine, 2026. DOI: 10.12209/CAIM202604250004.
本文报道1例经新生儿疾病筛查检出的3-甲基巴豆酰辅酶A羧化酶缺乏症(3-MCCD)患儿。患儿因新生儿筛查提示3-羟基异戊酰基肉碱(C5OH)轻度升高被召回,经高通量测序确诊为
MCCC1
基因c.980CG父源性杂合突变,其父亲为该位点纯合突变。患儿无明显临床症状,予饮食调控、应激防护及代谢监测,同时构建“患儿—父亲—家庭”三级家系护理管理模式,开展喂养指导、症状预警与居家健康宣教。随访结果显示,患儿生长发育正常、代谢指标稳定,父亲未见代谢失代偿表现,家属照护能力提升。本案提示,新生儿筛查中C5OH轻度升高需重视父源性基因溯源与家系共筛。
This paper reports a case of 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) detected through newborn disease screening. The infant was recalled due to a mildly elevated 3-hydroxyisovaleryl carnitine (C5OH) level indicated by newborn screening, and was subsequently confirmed by high-throughput sequencing to carry a paternally derived heterozygous c.980CG mutation in the
MCCC1
gene, with the father identified as a homozygous carrier at the same locus. The infant presented with no obvious clinical symptoms and received dietary regulation, stress protection, and metabolic monitoring. Meanwhile, a three-tier family nursing management model of "child–father–family" was established to provide feeding guidance, symptom warning, and home-based health education. Follow-up results showed that the infant achieved normal growth and development with stable metabolic indicators, the father exhibited no signs of metabolic decompensation, and the family's caregiving capacity was significantly improved. This case suggests that mild elevation of C5OH in newborn screening warrants attention to paternal genetic tracing and pedigree co-screening.
Eldjarn L , Jellum E , Stokke O , et al . Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism [J]. Lancet , 1970 , 2 ( 7671 ): 521 - 522 .
Terracciano R , Ruoppolo M , Barretta F , et al . An asymptomatic father diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency following his son newborn screening test [J]. Mol Genet Metab Rep , 2024 , 40 : 101116 .
王彦云 , 孙云 , 程威 , 等 . 新生儿筛查发现4例MCCD患儿的临床和基因分析 [J]. 临床检验杂志 , 2017 , 35 ( 8 ): 601 - 604 .
Wang Y Y , Sun Y , Cheng W , et al . Clinical and genetic analysis of 4 child patients with 3-methylcrotonyl-coenzyme A carboxylase deficiency (MCCD) identified by neonatal screening [J]. Chin J Clin Lab Sci , 2017 , 35 ( 8 ): 601 - 604 . (in Chinese)
中华预防医学会出生缺陷预防与控制专业委员会新生儿遗传代谢病筛查学组 , 顾学范 , 赵正言 , 等 . 新生儿遗传代谢病筛查组织管理及血片采集技术规范专家共识 [J]. 中华新生儿科杂志(中英文) , 2023 , 38 ( 6 ): 321 - 326 .
Newborn Genetic Metabolic Disease Screening Group, Committee on Prevention and Control of Birth Defects, Chinese Society of Preventive Medicine, Gu X F, Zhao Z Y, et al . Consensus on the organizational management and dry blood sample collection for neonatal inherited metabolic disease screening [J]. Chin J Neonatol , 2023 , 38 ( 6 ): 321 - 326 . (in Chinese)
Lin Y M , Peng W L , Jiang M Y , et al . Clinical, biochemical and genetic analysis of Chinese patients with isobutyryl-CoA dehydrogenase deficiency [J]. Clin Chim Acta , 2018 , 487 : 133 - 138 .
Lin Y M , Zheng Q Z , Zheng T W , et al . Expanded newborn screening for inherited metabolic disorders and genetic characteristics in a southern Chinese population [J]. Clin Chim Acta , 2019 , 494 : 106 - 111 .
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 .
叶军 . 新生儿遗传代谢病筛查发展及诊治规范 [J]. 中国计划生育和妇产科 , 2016 , 8 ( 1 ): 6 - 13 .
Ye J . Development of screening for neonatal genetic metabolic diseases and norms of diagnosis and treatment [J]. Chin J Fam Plan Gynecotokology , 2016 , 8 ( 1 ): 6 - 13 . (in Chinese)
Nelson A T , Jones P M , Cao J . Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency [J]. Clin Chim Acta , 2024 , 560 : 119747 .
张豪正 , 王广新 . 生物素酶缺乏症研究进展 [J]. 中华实用儿科临床杂志 , 2016 , 31 ( 8 ): 637 - 640 .
Zhang H Z , Wang G X . Advances in studies on biotinidase deficiency [J]. Chin J Appl Clin Pediatr , 2016 , 31 ( 8 ): 637 - 640 . (in Chinese)
李建党 , 陈雨晗 , 闫磊 , 等 . β-酮硫解酶缺乏症的质谱筛查与遗传学诊断 [J]. 实用医学杂志 , 2025 , 41 ( 3 ): 422 - 427 .
Li J D , Chen Y H , Yan L , et al . Mass spectrometry screening and genetic diagnosis of β-ketothiolase deficiency [J]. J Pract Med , 2025 , 41 ( 3 ): 422 - 427 . (in Chinese)
吴雪 , 李园 , 陈琼 , 等 . β-酮硫解酶缺乏症3例患儿的临床及遗传学分析 [J]. 中华医学遗传学杂志 , 2024 , 41 ( 3 ): 289 - 293 .
Wu X , Li Y , Chen Q , et al . Clinical features and genetic analysis of three children with β-ketothiolase deficiency [J]. Chin J Med Genet , 2024 , 41 ( 3 ): 289 - 293 . (in Chinese)
常国营 , 凌诗颖 , 邱文娟 , 等 . 3-羟基-3甲基戊二酰辅酶A裂解酶缺乏症临床特点及基因变异分析 [J]. 临床儿科杂志 , 2023 , 41 ( 4 ): 278 - 283 .
Chang G Y , Ling S Y , Qiu W J , et al . Clinical and genetic analysis of children with 3-hydroxy-3-methyglutaryl-coenzyme A lyase deficiency [J]. J Clin Pediatr , 2023 , 41 ( 4 ): 278 - 283 . (in Chinese)
张尧 , 邱文娟 , 黄新文 , 等 . 有机酸血症导致高氨血症和代谢危象防治专家共识 [J]. 中国实用儿科杂志 , 2025 , 40 ( 5 ): 353 - 360 .
Zhang Y , Qiu W J , Huang X W , et al . Expert consensus on prevention and treatment of hyperammonemia and metabolic crisis caused by organic acidemias [J]. Chin J Pract Pediatr , 2025 , 40 ( 5 ): 353 - 360 . (in Chinese)
丰利芳 , 巩纯秀 , 韩连书 . 遗传代谢病的饮食治疗 [J]. 中华实用儿科临床杂志 , 2022 , 37 ( 11 ): 870 - 874 .
Feng L F , Gong C X , Han L S . Dietary therapy for inherited metabolic diseases [J]. Chin J Appl Clin Pediatr , 2022 , 37 ( 11 ): 870 - 874 . (in Chinese)
顾学范 . 临床遗传代谢病 [M]. 北京 : 人民卫生出版社 , 2015 .
顾学范 , 韩连书 , 余永国 . 中国新生儿遗传代谢病筛查现状及展望 [J]. 罕见病研究 , 2022 , 1 ( 1 ): 13 - 19 .
Gu X F , Han L S , Yu Y G . Current status and prospects of screening for newborn hereditary metaboolic disease [J]. J Rare Dis , 2022 , 1 ( 1 ): 13 - 19 . (in Chinese)
Grünert S C , Stucki M , Morscher R J , et al . 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals [J]. Orphanet J Rare Dis , 2012 , 7 : 31 .
陈燕茹 , 苏雅君 , 林壹明 , 等 . 1例父源性3-甲基巴豆酰辅酶A羧化酶缺乏症的临床特点及家系分析 [J]. 罕少疾病杂志 , 2024 , 31 ( 6 ): 4 - 7 .
Chen Y R , Su Y J , Lin Y M , et al . Clinical features and family analysis of a case of paternal 3-methylcrotonyl coenzyme a carboxylase deficiency [J]. J Rare Uncommon Dis , 2024 , 31 ( 6 ): 4 - 7 . (in Chinese)
Şahin S , Yıldırım M , Bektaş Ö , et al . Intracranial calcification associated with 3-methylcrotonyl-CoA carboxylase deficiency [J]. Mol Syndromol , 2021 , 12 ( 6 ): 393 - 398 .
Forsyth R , Vockley C W , Edick M J , et al . Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System [J]. Mol Genet Metab , 2016 , 118 ( 1 ): 15 - 20 .
Eminoglu F T , Ozcelik A A , Okur I , et al . 3-methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family [J]. J Child Neurol , 2009 , 24 ( 4 ): 478 - 481 .
Visser G , Suormala T , Smit G P A , et al . 3-Methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father [J]. Eur J Pediatr , 2000 , 159 ( 12 ): 901 - 904 .
0
浏览量
0
下载量
0
CSCD
关联资源
相关文章
相关作者
相关机构
京公网安备11010802024621
