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Only a few cases of MSUD have been documented in Mainland China. In this report, 8 patients (4 females and 4 males) with MSUD from 8 unrelated Chinese Han families were diagnosed at the age of 6\u00a0days to 4\u00a0months. All the coding regions and exon\/intron boundaries of <jats:italic>BCKDHA<\/jats:italic>, <jats:italic>BCDKHB<\/jats:italic>, <jats:italic>DBT<\/jats:italic> and <jats:italic>DLD<\/jats:italic> genes were analyzed by targeted NGS in the 8 MSUD pedigrees. Targeted NGS revealed 2 pedigrees with MSUD Ia, 5 pedigrees with Ib, 1 pedigree with MSUD II. Totally, 13 variants were detected, including 2 variants (p.Ala216Val and p.Gly281Arg) in <jats:italic>BCKDHA<\/jats:italic> gene, 10 variants (p.Gly95Ala, p.Ser171Pro, p.Phe175Leu, p.Arg183Trp, p.Lys222Thr, p.Arg285Ter, p.Arg111Ter, p.S184Pfs*46, p.Arg170Cys, p.I160Ffs*25) in <jats:italic>BCKDHB<\/jats:italic> gene, 1 variant (p.Arg431Ter) in <jats:italic>DBT<\/jats:italic> gene. In addition, 4 previously unidentified variants (p.Gly281Arg in <jats:italic>BCKDHA<\/jats:italic> gene, p.Ser171Pro, p.Gly95Ala and p.Lys222Thr in <jats:italic>BCKDHB<\/jats:italic> gene) were identified. NGS plus Sanger sequencing detection is effective and accurate for gene diagnosis. Computational structural modeling indicated that these novel variations probably affect structural stability and considered as likely pathogenic variants.<\/jats:p>","DOI":"10.1038\/s41598-021-98357-2","type":"journal-article","created":{"date-parts":[[2021,9,23]],"date-time":"2021-09-23T10:57:49Z","timestamp":1632394669000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population"],"prefix":"10.1038","volume":"11","author":[{"given":"Xiaohua","family":"Fang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaofan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin","family":"Feng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Bai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuechao","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,23]]},"reference":[{"key":"98357_CR1","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1515\/jpem-2014-0341","volume":"28","author":"M Miryounesi","year":"2015","unstructured":"Miryounesi, M., Ghafouri-Fard, S., Goodarzi, H. & Fardaei, M. 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