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
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...
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2021
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oai:doaj.org-article:633010b3118748ed92567ef011ac232e2021-11-21T19:38:53ZDifferent 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 study2324-926910.1002/mgg3.1822https://doaj.org/article/633010b3118748ed92567ef011ac232e2021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1822https://doaj.org/toc/2324-9269Abstract 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 < .001). The median levels of posttreatment propionyl carnitine (C3), C3/acetyl carnitine (C2) ratio in the blood, and methylmalonic acid in the urine were all lower than pretreatment, and the median level of C3/C2 ratio in the completely responsive group was within the normal range. In 266 patients, 144 different mutations in the MMUT gene were identified. Patients with the mutations of c.1663G>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.Yue YuRuixue ShuaiLili LiangWenjuan QiuLinghua ShenShengnan WuHaiyan WeiYongxing ChenChiju YangPeng XuXigui ChenHui ZouJizhen FengTingting NiuHaili HuJun YeHuiwen ZhangDeyun LuZhuwen GongXia ZhanWenjun JiXuefan GuLianshu HanWileyarticlegenotype–phenotype correlationmethylmalonic acidemiamethylmalonyl‐CoA mutasevitamin B12GeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021) |
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| collection |
DOAJ |
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EN |
| topic |
genotype–phenotype correlation methylmalonic acidemia methylmalonyl‐CoA mutase vitamin B12 Genetics QH426-470 |
| spellingShingle |
genotype–phenotype correlation methylmalonic acidemia methylmalonyl‐CoA mutase vitamin B12 Genetics QH426-470 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 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 |
| description |
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 < .001). The median levels of posttreatment propionyl carnitine (C3), C3/acetyl carnitine (C2) ratio in the blood, and methylmalonic acid in the urine were all lower than pretreatment, and the median level of C3/C2 ratio in the completely responsive group was within the normal range. In 266 patients, 144 different mutations in the MMUT gene were identified. Patients with the mutations of c.1663G>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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Yue Yu |
| title |
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 |
| title_short |
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 |
| title_full |
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 |
| title_fullStr |
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 |
| title_full_unstemmed |
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 |
| title_sort |
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 |
| publisher |
Wiley |
| publishDate |
2021 |
| url |
https://doaj.org/article/633010b3118748ed92567ef011ac232e |
| work_keys_str_mv |
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