The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of sc...
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| Format: | Article |
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Frontiers Media S.A.
2022-02-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.805599/full |
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| author | Shiying Ling Shengnan Wu Ruixue Shuai Yue Yu Wenjuan Qiu Haiyan Wei Chiju Yang Peng Xu Hui Zou Jizhen Feng Tingting Niu Haili Hu Huiwen Zhang Lili Liang Deyun Lu Zhuwen Gong Xia Zhan Wenjun Ji Xuefan Gu Lianshu Han |
| author_facet | Shiying Ling Shengnan Wu Ruixue Shuai Yue Yu Wenjuan Qiu Haiyan Wei Chiju Yang Peng Xu Hui Zou Jizhen Feng Tingting Niu Haili Hu Huiwen Zhang Lili Liang Deyun Lu Zhuwen Gong Xia Zhan Wenjun Ji Xuefan Gu Lianshu Han |
| author_sort | Shiying Ling |
| collection | DOAJ |
| description | Objective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of screening individual.Methods: A national, retrospective multi-center study of infants with confirmed cblC defect identified by NBS between 2004 and 2020 was conducted. We collected a large cohort of 538 patients and investigated their clinical data in detail, including disease onset, biochemical metabolites, and gene variation, and explored different factors on the prognosis.Results: The long-term outcomes of all patients were evaluated, representing 44.6% for poor outcomes. In our comparison of patients with already occurring clinical signs before treatment to asymptomatic ones, the incidence of intellectual impairment, movement disorders, ocular complications, hydrocephalus, and death were significantly different (p < 0.01). The presence of disease onset [Odd ratio (OR) 12.39, 95% CI 5.15–29.81; p = 0.000], variants of c.609G>A (OR 2.55, 95% CI 1.49–4.35; p = 0.001), and c.567dupT (OR 2.28, 95% CI 1.03–5.05; p = 0.042) were independently associated with poor outcomes, especially for neurodevelopmental deterioration.Conclusion: NBS, avoiding major disease-related events and allowing an earlier treatment initiation, appeared to have protective effects on the prognosis of infants with cblC defect. |
| first_indexed | 2024-12-24T00:15:37Z |
| format | Article |
| id | doaj.art-432e46cdd68249dbb2ed0ef62ac9d279 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-24T00:15:37Z |
| publishDate | 2022-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Genetics |
| spelling | doaj.art-432e46cdd68249dbb2ed0ef62ac9d2792022-12-21T17:24:44ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-02-011310.3389/fgene.2022.805599805599The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn ScreeningShiying Ling0Shengnan Wu1Ruixue Shuai2Yue Yu3Wenjuan Qiu4Haiyan Wei5Chiju Yang6Peng Xu7Hui Zou8Jizhen Feng9Tingting Niu10Haili Hu11Huiwen Zhang12Lili Liang13Deyun Lu14Zhuwen Gong15Xia Zhan16Wenjun Ji17Xuefan Gu18Lianshu Han19Department of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Endocrinology and Metabolism, Henan Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Endocrinology and Metabolism, Henan Key Laboratory of Children’s Genetics and Metabolic Diseases, Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, ChinaCenter of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, ChinaCenter of Neonatal Disease Screening, Jining Maternal and Child Health Care Hospital, Jining, ChinaCenter of Neonatal Disease Screening, Jinan Maternal and Child Health Care Hospital, Jinan, ChinaCenter of Neonatal Disease Screening, Shijiazhuang Maternal and Child Health Care Hospital, Shijiazhuang, ChinaCenter of Neonatal Disease Screening, Shandong Maternal and Child Health Care Hospital, Jinan, ChinaCenter of Neonatal Disease Screening, Hefei Maternal and Child Health Care Hospital, Hefei, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaDepartment of Pediatric Endocrinology/Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaObjective: The cblC type of combined methylmalonic acidemia and homocystinuria, an inherited disorder with variable phenotypes, is included in newborn screening (NBS) programs at multiple newborn screening centers in China. The present study aimed to investigate the long-term clinical benefits of screening individual.Methods: A national, retrospective multi-center study of infants with confirmed cblC defect identified by NBS between 2004 and 2020 was conducted. We collected a large cohort of 538 patients and investigated their clinical data in detail, including disease onset, biochemical metabolites, and gene variation, and explored different factors on the prognosis.Results: The long-term outcomes of all patients were evaluated, representing 44.6% for poor outcomes. In our comparison of patients with already occurring clinical signs before treatment to asymptomatic ones, the incidence of intellectual impairment, movement disorders, ocular complications, hydrocephalus, and death were significantly different (p < 0.01). The presence of disease onset [Odd ratio (OR) 12.39, 95% CI 5.15–29.81; p = 0.000], variants of c.609G>A (OR 2.55, 95% CI 1.49–4.35; p = 0.001), and c.567dupT (OR 2.28, 95% CI 1.03–5.05; p = 0.042) were independently associated with poor outcomes, especially for neurodevelopmental deterioration.Conclusion: NBS, avoiding major disease-related events and allowing an earlier treatment initiation, appeared to have protective effects on the prognosis of infants with cblC defect.https://www.frontiersin.org/articles/10.3389/fgene.2022.805599/fullmethylmalonic acidemia combined with homocysteinemialong-term outcomenewborn screeningMMACHC genetandem mass spectrometry |
| spellingShingle | Shiying Ling Shengnan Wu Ruixue Shuai Yue Yu Wenjuan Qiu Haiyan Wei Chiju Yang Peng Xu Hui Zou Jizhen Feng Tingting Niu Haili Hu Huiwen Zhang Lili Liang Deyun Lu Zhuwen Gong Xia Zhan Wenjun Ji Xuefan Gu Lianshu Han The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening Frontiers in Genetics methylmalonic acidemia combined with homocysteinemia long-term outcome newborn screening MMACHC gene tandem mass spectrometry |
| title | The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening |
| title_full | The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening |
| title_fullStr | The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening |
| title_full_unstemmed | The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening |
| title_short | The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening |
| title_sort | follow up of chinese patients in cblc type methylmalonic acidemia identified through expanded newborn screening |
| topic | methylmalonic acidemia combined with homocysteinemia long-term outcome newborn screening MMACHC gene tandem mass spectrometry |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.805599/full |
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