{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T16:55:35Z","timestamp":1781628935707,"version":"3.54.5"},"reference-count":17,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,1,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_crpm-2024-0052_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Inborn errors of metabolism (IEMs) result from pathogenic variants in genes involved in essential metabolic pathways. Newborn screening (NBS) using tandem mass spectrometry (MS\/MS) has facilitated the early detection and diagnosis of IEMs, enabling timely medical intervention and improved clinical outcomes. This study introduces a novel pathogenic variant in the\n                      <jats:italic>BCKDHB<\/jats:italic>\n                      gene in a case of maple syrup urine disease (MSUD) diagnosed through the NBS program in northern\u00a0Iran.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2024-0052_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      Dried blood spot samples from newborns were analyzed using MS\/MS (Shimadzu LCMS-8045, Japan), which identified a consanguineous case suspected of having MSUD. The confirmatory HPLC test revealed elevated levels of threonine, valine, isoleucine, and allo-isoleucine, indicating MSUD. Genetic analysis identified a homozygous frameshift variant, c.773dupT (NM_183050.4, p.Leu260ThrfsTer12), in exon 7 of the\n                      <jats:italic>BCKDHB<\/jats:italic>\n                      \u00a0gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_crpm-2024-0052_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The identification of novel pathogenic variants in MSUD patients, along with phenotype-genotype correlations, may predict the clinical severity of the variant and offer prognostic value, particularly for individuals with this specific variant.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/crpm-2024-0052","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T16:02:51Z","timestamp":1781625771000},"source":"Crossref","is-referenced-by-count":0,"title":["A new frame shift pathogenic variant (c.773dupT) in the\n                    <i>BCKDHB<\/i>\n                    gene caused MSUD in an infant from north of Iran"],"prefix":"10.1515","volume":"15","author":[{"given":"Hossein","family":"Jalali","sequence":"first","affiliation":[{"name":"Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences , Sari , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Zamanfar","sequence":"additional","affiliation":[{"name":"Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences , Sari , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryam","family":"Rahimi","sequence":"additional","affiliation":[{"name":"Sinaye Mehr Research Center , Mazandaran University of Medical Sciences , Sari , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hossein","family":"Mokhtari","sequence":"additional","affiliation":[{"name":"Amol Faculty of Paramedicine , Mazandaran University of Medical Sciences , Sari , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Ghorbani","sequence":"additional","affiliation":[{"name":"Sinaye Mehr Research Center , Mazandaran University of Medical Sciences , Sari , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammad Reza","family":"Mahdavi","sequence":"additional","affiliation":[{"name":"Thalassemia Research Center, Hemoglobinopathy Institute, Mazandaran University of Medical Sciences , Sari , Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"key":"2026061616024648190_j_crpm-2024-0052_ref_001","doi-asserted-by":"crossref","unstructured":"Scaturro, G, Sanfilippo, C, Piccione, M, Piro, E, Giuffr\u0623\u0192, M, Corsello, G. Newborn screening of inherited metabolic disorders by tandem mass spectrometry: past, present and future. La Pediatr Med Chir 2013;35. https:\/\/doi.org\/10.4081\/pmc.2013.42.","DOI":"10.4081\/pmc.2013.42"},{"key":"2026061616024648190_j_crpm-2024-0052_ref_002","unstructured":"Van Karnebeek, CD. Inborn errors of metabolism are not hopeless; early identification of treatable conditions in children with intellectual disability. Ned Tijdschr Geneeskd 2014;158:A8042\u2013A."},{"key":"2026061616024648190_j_crpm-2024-0052_ref_003","doi-asserted-by":"crossref","unstructured":"Genereaux, D, van Karnebeek, CDM, Birch, PH. Costs of caring for children with an intellectual developmental disorder. Disabil Health J 2015;8:646\u201351. https:\/\/doi.org\/10.1016\/j.dhjo.2015.03.011.","DOI":"10.1016\/j.dhjo.2015.03.011"},{"key":"2026061616024648190_j_crpm-2024-0052_ref_004","doi-asserted-by":"crossref","unstructured":"Edelmann, L, Wasserstein, MP, Kornreich, R, Sansaricq, C, Snyderman, SE, Diaz, GA. Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 2001;69:863\u20138. https:\/\/doi.org\/10.1086\/323677.","DOI":"10.1086\/323677"},{"key":"2026061616024648190_j_crpm-2024-0052_ref_005","doi-asserted-by":"crossref","unstructured":"Zeltner, NA, Huemer, M, Baumgartner, MR, Landolt, MA. Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism-a systematic review. Orphanet J Rare Dis 2014;9:1\u201318. https:\/\/doi.org\/10.1186\/s13023-014-0159-8.","DOI":"10.1186\/s13023-014-0159-8"},{"key":"2026061616024648190_j_crpm-2024-0052_ref_006","doi-asserted-by":"crossref","unstructured":"Levin, ML, Scheimann, A, Lewis, RA, Beaudet, AL. Cerebral edema in maple syrup urine disease. 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