{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:03:56Z","timestamp":1787238236628,"version":"build-2736575974"},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2020-0746_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2020-0746_abs_002\">\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2020-0746_abs_003\">\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two novel BCKDHB mutations c.90_91insCTGGCGCGGGG (p.Phe35TrpfsTer41) and c.80_90del (p.Ala32PhefsTer48) were identified. We found a total of 52 cases of MSUD reports so far. A total of 49 cases had the symptom of poor feeding (94.2%), 50 cases showed poor responses to stimulation (96.2%), 21 cases had odor of maple syrup (40.3%), 29 cases had seizures (55.7%), and 13 cases had respiratory failure (25.0%). The average of the blood ammonia was 127.2\u00a0\u00b1\u00a075.0\u00a0\u03bcmol\/L. A total of 18 cases reported the gene testing, among of them 9 cases of BCKDHA mutations, 6 cases of BCKDHB mutations, and 2 cases of DBT mutations. A total of 13 cases (25%) were treated with mechanical ventilation, 50 cases (96.2%) with protein-restricted diet and\n                      <jats:sc>l<\/jats:sc>\n                      -carnitine, 29 cases with thiamine, and only 2 cases were treated with blood purification. Finally, 19 patients (36.5%) were died, 21 cases (40.4%) were improved after treatments.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2020-0746_abs_004\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The clinical phenotype of neonatal MSUD in China belongs to the classical type currently. Suspected patients should have blood or urine branched-chain amino acid levels tested and brain MRI as early as possible to enable early diagnosis, thus improvement in prognosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2020-0746","type":"journal-article","created":{"date-parts":[[2021,6,29]],"date-time":"2021-06-29T18:13:35Z","timestamp":1624990415000},"page":"1147-1156","source":"Crossref","is-referenced-by-count":4,"title":["Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review"],"prefix":"10.1515","volume":"34","author":[{"given":"Hong\u2010Hua","family":"Jiang","sequence":"first","affiliation":[{"name":"Department of Pediatrics , Northern Jiangsu People\u2019s Hospital, Clinical Medical College, Yangzhou University , Yangzhou , China"},{"name":"Department of Neonatology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xian","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting-Ting","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Nephrology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Rong","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Neonatology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Nephrology , Nanjing Children\u2019s Hospital of Nanjing Medical University , Nanjing , Jiangsu , China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"2021090720501753211_j_jpem-2020-0746_ref_001","doi-asserted-by":"crossref","unstructured":"Zeltner, NA, Huemer, M, Baumgartner, MR, Landolt, MA. 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Clinical, biochemical and genetic features of 13 children with maple syrup urine disease. Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi 2016;31:569\u201372."},{"key":"2021090720501753211_j_jpem-2020-0746_ref_005","unstructured":"Shen, YL, Gong, XH, Yan, JB, Qin, L, Qiu, G. A case of neonatal Maple syrup urine disease and analysis of its gene mutation. Zhonghua Er Ke Za Zhi 2015;53:66\u201370."},{"key":"2021090720501753211_j_jpem-2020-0746_ref_006","unstructured":"Liang, YY, Xu, P. A case of maple syrup urine disease in newborns. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2015;32:760."},{"key":"2021090720501753211_j_jpem-2020-0746_ref_007","unstructured":"Mao, X, Wang, H. A case of maple syrup urine disease in newborns. Zhongguo Xin Sheng Er Ke Za Zhi 2015;30:299\u2013300."},{"key":"2021090720501753211_j_jpem-2020-0746_ref_008","unstructured":"Fang, RQ, Cao, DR, Zhou, ZF, Wen, SP, Chen, XP, Wang, S. 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Pediatr Res 2006;59:17\u201320. https:\/\/doi.org\/10.1203\/01.pdr.0000190571.60385.34.","DOI":"10.1203\/01.pdr.0000190571.60385.34"},{"key":"2021090720501753211_j_jpem-2020-0746_ref_040","doi-asserted-by":"crossref","unstructured":"Bouchereau, J, Leduc-Leballeur, J, Pichard, S, Imbard, A, Benoist, JF, Abi Warde, MT, et al.. Neurocognitive profiles in MSUD school-age patients. 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