中国医学前沿杂志（电子版）2025，Vol.17Issue(7)：41-47,7.DOI:10.12037/YXQY.2025.07-06
钴胺素相关C型代谢基因c.80A>G突变cblC型甲基丙二酸血症患儿临床特征
Clinical features of cblC type methylmalonic acidemia in children with MMACHC c.80A>G mutation
摘要
Abstract
Objective To investigate the clinical features and prognosis of children with methylmalonic acidemia(MMA)harboring the metabolism of cobalamin associated C(MMACHC)c.80A>G mutation.Methods A retrospective analysis was conducted on the clinical features and treatment of 19 MMA children carrying the MMACHC c.80A>G mutation who visited the Capital Center for Children's Health,Capital Medical University from January to December 2024.Patients who initiated treatment within one year of diagnosis were classified into the early treatment group,while those who began treatment after one year were classified into the late treatment group.The pediatric quality of life inventory 4.0(PedsQL 4.0)scale was used to assess the quality of life,and Spearman correlation analysis was used to analyze the prognostic related influencing factors.Results Among the 19 MMA children with the MMACHC c.80A>G mutation,4 cases(21.1%)exhibited a homozygous mutation,15 cases(78.9%)had compound heterozygous mutations.18 cases were diagnosed after the onset of clinical symptoms,and the remaining 1 case was diagnosed before the appearance of symptoms through neonatal metabolic screening.Among the 18 symptomatic cases,14(77.8%)presented with anemia,13(72.2%)with developmental delay,and 11(61.1%)with renal impairment.In the early-onset group(age of onset≤1 year,n=11),the prevalence of muscle hypertonia or hypotonia was significantly higher than that in the late-onset group(age of onset>1 year,n=7)(54.5%vs.0,P<0.05).The early treatment group showed significantly higher total quality of life scores and social functioning scores compared to the late treatment group[(81.83±8.29)points vs.(65.61±15.93)points,(87.00±28.30)vs.(58.33±36.15)points,P<0.05].Total quality of life and social functioning scores were negatively correlated with the onset of treatment time(r=-0.592,P=0.016;r=-0.555,P=0.026).Conclusions Children with homozygous MMACHC c.80A>G mutations are mostly of late-onset type;children with early-onset who carry the MMACHC c.80A>G mutation are more likely to have abnormal muscle tone.Early diagnosis and treatment are crucial for improving social function and improving the quality of life.关键词
甲基丙二酸血症/钴胺素相关C型代谢/临床特征/生活质量Key words
Methylmalonic acidemia/MMACHC/Clinical feature/Quality of life引用本文复制引用
程沛迪,吴欢欢,刘婉婷,刘硕,郑萍,陈倩,申梦瑶,程大伟,姬辛娜,冯硕,谢丽娜,李淑品..钴胺素相关C型代谢基因c.80A>G突变cblC型甲基丙二酸血症患儿临床特征[J].中国医学前沿杂志（电子版）,2025,17(7):41-47,7.基金项目
国家重点研发项目(2022YFC2703903) （2022YFC2703903）
北京亦城合作发展基金会科研项目罕见病相关课题资助公益项目(YCXJ-JZ-2023-017) （YCXJ-JZ-2023-017）
吴阶平医学基金会临床科研专项(320.6750.2021-04-33) National Key Research and Development Program(2022YFC2703903) （320.6750.2021-04-33）
Beijing E-town Cooperation and Development Foundation(YCXJ-JZ-2023-017) （YCXJ-JZ-2023-017）
Wu Jieping Medical Foundation Clinical Research Project(320.6750.2021-04-33) （320.6750.2021-04-33）
