{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T12:32:31Z","timestamp":1765888351812,"version":"3.41.2"},"reference-count":30,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T00:00:00Z","timestamp":1591660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100012046","name":"Vietnam Academy of Science and Technology","doi-asserted-by":"publisher","award":["KHCBSS.02\/18\u201020"],"award-info":[{"award-number":["KHCBSS.02\/18\u201020"]}],"id":[{"id":"10.13039\/100012046","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease\u2010causing mutations can affect the <jats:italic>BCKDHA<\/jats:italic>, <jats:italic>BCKDHB<\/jats:italic>, and <jats:italic>DBT<\/jats:italic> genes encoding for the E1\u03b1, E1\u03b2, and E2 subunits of the multienzyme branched\u2010chain \u03b1\u2010keto acid dehydrogenase (BCKDH) complex. In the present study, novel pathogenic variants in <jats:italic>BCKDHB<\/jats:italic> and <jats:italic>DBT<\/jats:italic> genes were identified in three Vietnamese families with MSUD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three newborn patients from three unrelated Vietnamese families were diagnosed with MSUD at the Metabolic Clinic, National Hospital of Pediatrics. Blood samples of 11 relatives from two generations of the three families diagnosed with MSUD were analyzed using exome and Sanger sequencing analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Novel pathogenic variants in <jats:italic>BCKDHB<\/jats:italic> (c.1103C&gt;T, c.989A&gt;G, and c.704G&gt;A), and <jats:italic>DBT<\/jats:italic> (c.263_265delAAG) genes were identified in three pediatric patients with MSUD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We have identified novel pathogenic variants in the MSUD\u2010related genes in the pedigree of the three patient's families. Our findings expand the mutational spectrum of MSUD and provide the scientific basis for genetic counseling for the patient's families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1337","type":"journal-article","created":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T08:54:11Z","timestamp":1591692851000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of novel mutations in <i>BCKDHB<\/i> and <i>DBT<\/i> genes in Vietnamese patients with maple sirup urine disease"],"prefix":"10.1002","volume":"8","author":[{"given":"Thi T. N.","family":"Nguyen","sequence":"first","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology (VAST) Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chi D.","family":"Vu","sequence":"additional","affiliation":[{"name":"National Hospital of Pediatrics Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngoc L.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Institute of Genome Research Vietnam Academy of Science and Technology (VAST) Hanoi Vietnam"},{"name":"Graduate University of Science and Technology Vietnam Academy of Science and Technology (VAST) Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thi T. 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