Molecular Genetics & Genomic Medicine (Nov 2021)
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study
- Yue Yu,
- Ruixue Shuai,
- Lili Liang,
- Wenjuan Qiu,
- Linghua Shen,
- Shengnan Wu,
- Haiyan Wei,
- Yongxing Chen,
- Chiju Yang,
- Peng Xu,
- Xigui Chen,
- Hui Zou,
- Jizhen Feng,
- Tingting Niu,
- Haili Hu,
- Jun Ye,
- Huiwen Zhang,
- Deyun Lu,
- Zhuwen Gong,
- Xia Zhan,
- Wenjun Ji,
- Xuefan Gu,
- Lianshu Han
Affiliations
- Yue Yu
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Ruixue Shuai
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Lili Liang
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Wenjuan Qiu
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Linghua Shen
- Department of Pediatric Endocrinology and Genetics Children’s Hospital Affiliated to Zhengzhou University Zhengzhou China
- Shengnan Wu
- Department of Pediatric Endocrinology and Genetics Children’s Hospital Affiliated to Zhengzhou University Zhengzhou China
- Haiyan Wei
- Department of Pediatric Endocrinology and Genetics Children’s Hospital Affiliated to Zhengzhou University Zhengzhou China
- Yongxing Chen
- Department of Pediatric Endocrinology and Genetics Children’s Hospital Affiliated to Zhengzhou University Zhengzhou China
- Chiju Yang
- Center of Neonatal Disease Screening Jining Maternal and Child Health Care Hospital Jining China
- Peng Xu
- Center of Neonatal Disease Screening Jining Maternal and Child Health Care Hospital Jining China
- Xigui Chen
- Center of Neonatal Disease Screening Jining Maternal and Child Health Care Hospital Jining China
- Hui Zou
- Center of Neonatal Disease Screening Jinan Maternal and Child Health Care Hospital Jinan China
- Jizhen Feng
- Center of Neonatal Disease Screening Shijiazhuang Maternal and Child Health Care Hospital Shijiazhuang China
- Tingting Niu
- Center of Neonatal Disease Screening Shandong Maternal and Child Health Care Hospital Jinan China
- Haili Hu
- Center of Neonatal Disease Screening Hefei Maternal and Child Health Care Hospital Hefei China
- Jun Ye
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Huiwen Zhang
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Deyun Lu
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Zhuwen Gong
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Xia Zhan
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Wenjun Ji
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Xuefan Gu
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- Lianshu Han
- Department of Pediatric Endocrinology and Genetic Metabolism Shanghai Institute for Pediatric ResearchXinhua Children’s HospitalXinhua HospitalShanghai Jiaotong University School of Medicine Shanghai China
- DOI
- https://doi.org/10.1002/mgg3.1822
- Journal volume & issue
-
Vol. 9,
no. 11
pp. n/a – n/a
Abstract
Abstract Background To summarize the relationship between different MMUT gene mutations and the response to vitamin B12 in MMA. Methods This was a retrospective study of patients diagnosed with mut‐type MMA. All patients with mut‐type MMA were tested for responsiveness to vitamin B12. Results There were 81, 27, and 158 patients in the completely responsive, partially responsive, and nonresponsive groups, respectively, and the proportions of symptom occurrence were 30/81 (37.0%), 21/27 (77.8%), and 131/158 (82.9%), respectively (p A, c.2080C>T, c.1880A>G, c.1208G>A, etc. were completely responsive and with the mutations of c.1741C>T, c.1630_1631GG>TA, c.599T>C, etc. were partially responsive. The proportions of healthy/developmental delay outcomes in the three groups were 63.0%/23.5%, 33.3%/40.7%, and 13.3%/60.1%, respectively (p < .001). Conclusion Different mutations in the MMUT gene are associated with the effect of vitamin B12 treatment.
Keywords