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The control group consisted of 200 patients diagnosed with CblC disease who did not possess the c.482G\u2009&gt;\u2009A mutation. Clinical features, including disease onset, symptoms, biochemical metabolites, gene mutation, and follow-up outcomes were reviewed and analyzed in detail. The median follow-up period spanned 3\u00a0years and 8\u00a0months, with a range of 1\u00a0year and 2\u00a0months to 12\u00a0years and 10\u00a0months.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Among 195 patients carrying the c.482G\u2009&gt;\u2009A variant, 125 (64.1%) cases were diagnosed by newborn screening (NBS), 60 (30.8%) cases were detected due to disease onset, and 10 (5.1%) cases were identified from sibling diagnoses. One hundred and seventeen (93.6%) individuals who were diagnosed by NBS, and nine patients who came from sibling diagnoses remained asymptomatic in this study. From 69 symptomatic patients of the c.482G\u2009&gt;\u2009A group, more patients presented with later onset, and the top six common clinical symptoms at disease onset were developmental delay (59.4%), lower limb weakness and poor exercise tolerance (50.7%), cognitive decline (37.7%), gait instability and abnormal posture (36.2%), seizures (26.1%), and psychiatric and behavioral disturbances (24.6%). In the 159 symptomatic patients lacking c.482G\u2009&gt;\u2009A variants, the most frequently observed clinical manifestations at disease onset included developmental delay (81.8%), lethargy and feeding difficulty (62.9%), lower limb weakness and poor exercise tolerance (54.7%), prolonged neonatal jaundice (51.6%), vomiting (47.2%), and seizures (32.7%). Before treatment, the levels of blood propionylcarnitine, propionylcarnitine\/acetylcarnitine ratio, and homocysteine in the c.482G\u2009&gt;\u2009A group were significantly lower (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05) than those in the non-c.482G\u2009&gt;\u2009A group, while the concentration of urinary methylmalonic acid was slightly lower (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&gt;\u20090.05). The degree of decline in the above metabolites after treatment in different groups significantly differed in both plasma total homocysteine values and urinary methylmalonic acid levels (\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.05). In patients carrying the c.482G\u2009&gt;\u2009A variant compared with the non-c.428G\u2009&gt;\u2009A group, there were markedly lower rates of mortality (0.5% vs. 2.0%) and developmental delay (20.5% vs. 65.5%). When compared with individuals diagnosed due to disease onset, those identified through NBS in either group exhibited a reduced proportion of disease onset (6.7% vs. 100% in the c.482G\u2009&gt;\u2009A group, 54.4% vs. 100% in the non-c.482G\u2009&gt;\u2009A group), lower mortality (0.0% vs. 1.7% in the c.482G\u2009&gt;\u2009A group, 0.0% vs. 3.6% in the non-c.482G\u2009&gt;\u2009A group), and had a higher percentage of patients exhibiting normal psychomotor and language development (99.3% vs. 33.3% in the c.482G\u2009&gt;\u2009A group, 58.9% vs. 10.9% in the non-c.482G\u2009&gt;\u2009A group).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The c.482G\u2009&gt;\u2009A variant in\n                      <jats:italic>MMACHC<\/jats:italic>\n                      is associated with late-onset and milder phenotypes of CblC disease. Patients with this mutation tend to have a relatively better response to hydroxocobalamin, better metabolic control, and more favorable neurological outcomes. NBS and other appropriate pre-symptomatic treatments seem to be helpful in early diagnosis, resulting in favorable clinical outcomes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s12519-023-00770-2","type":"journal-article","created":{"date-parts":[[2023,12,9]],"date-time":"2023-12-09T03:02:05Z","timestamp":1702090925000},"page":"848-858","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Variable phenotypes and outcomes associated with the MMACHC c.482G\u2009&gt;\u2009A mutation: follow-up in a large CblC disease cohort"],"prefix":"10.1007","volume":"20","author":[{"given":"Sheng-Nan","family":"Wu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Shu","family":"E","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shi-Ying","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li-Li","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Juan","family":"Qiu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui-Wen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui-Xue","family":"Shuai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Yan","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi-Ju","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi-Gui","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Zou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ji-Zhen","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting-Ting","family":"Niu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Li","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai-Chuang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"De-Yun","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhu-Wen","family":"Gong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xia","family":"Zhan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen-Jun","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue-Fan","family":"Gu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong-Xing","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4209-5119","authenticated-orcid":false,"given":"Lian-Shu","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,12,9]]},"reference":[{"key":"770_CR1","doi-asserted-by":"publisher","first-page":"200","DOI":"10.1186\/s13023-020-01485-7","volume":"15","author":"R He","year":"2020","unstructured":"He R, Mo R, Shen M, Kang L, Song J, Liu Y, et al. 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Author Xue-Fan Gu is a member of the Editorial Board for <i>World Journal of Pediatrics<\/i>. The paper was handled by the other Editor and has undergone rigorous peer review process. Author Xue-Fan Gu was not involved in the journal's review of, or decisions related to, this manuscript. The authors have no conflict of interest to declare.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}