{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,4]],"date-time":"2026-01-04T02:51:22Z","timestamp":1767495082783,"version":"3.40.5"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T00:00:00Z","timestamp":1626825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple urine syrup disease (MSUD) is an autosomal recessive disorder characterized by deficient activity of the branched\u2010chain alpha ketoacid dehydrogenase (BCKAD) enzymatic complex due to biallelic variants in the alpha (<jats:italic>BCKDHA<\/jats:italic>) or beta (<jats:italic>BCKDHB<\/jats:italic>) subunits or the acyltransferase component (<jats:italic>DBT<\/jats:italic>). Treatment consists in leucine (LEU), isoleucine (ILE), and valine (VAL) (branched\u2010chain amino acids) dietary restriction and strict metabolic control. to determine the characteristics of the Chilean cohort with MSUD currently in follow\u2010up at Instituto de Nutrici\u00f3n y Tecnolog\u00eda de los Alimentos, during the 1990\u20132017 period Retrospective analytical study in 45 MSUD cases. Measured: biochemical parameters (LEU, ILE, and VAL), anthropometric evaluation, and neurocognitive development. In 18 cases undergoing genetic study were analyzed according to the gene and protein location, number of affected alleles, and type of posttranslational modification affected. Then, 45 patients with MSUD diagnosis were identified during the period: 37 were alive at the time of the study. Average diagnosis age was 71\u2009\u00b1\u2009231\u2009days. Average serum diagnosis LEU concentrations: 1.463\u2009\u00b1\u2009854.1\u2009\u03bcmol\/L, VAL 550\u2009\u00b1\u2009598\u2009\u03bcmol\/L and ILE 454\u2009\u00b1\u2009458\u2009\u03bcmol\/L. <jats:italic>BCKDHB<\/jats:italic> variants explain 89% cases, while <jats:italic>BCKDHA<\/jats:italic> and <jats:italic>DBT<\/jats:italic> variants explain 5.5% of cases each. Variants p.Thr338Ile in <jats:italic>BCKDHA<\/jats:italic>, p.Pro240Thr and p.Ser342Asn in <jats:italic>BCKDHB<\/jats:italic> have not been previously reported in literature. Average serum follow\u2010up LEU concentrations were 252.7\u00a0\u00b1\u200916.9\u00a0\u03bcmol\/L in the &lt;5\u2009years group and 299\u2009\u00b1\u2009123.2\u00a0\u03bcmol\/L in \u22655\u2009years. Most cases presented some degree of developmental delay. Early diagnosis and treatment is essential to improve the long\u2010term prognosis. Frequent blood LEU measurements are required to optimize metabolic control and to establish relationships between different aspects analyzed.<\/jats:p>","DOI":"10.1002\/ajmg.c.31933","type":"journal-article","created":{"date-parts":[[2021,7,21]],"date-time":"2021-07-21T11:20:35Z","timestamp":1626866435000},"page":"373-380","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile"],"prefix":"10.1002","volume":"187","author":[{"given":"Mar\u00eda Fernanda","family":"Medina","sequence":"first","affiliation":[{"name":"Hospital Barros Luco Trudeau  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Castro","sequence":"additional","affiliation":[{"name":"Laboratorio de Gen\u00e9tica y Enfermedades Metab\u00f3licas Instituto de Nutrici\u00f3n y Tecnolog\u00eda de Alimentos Doctor Fernando 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