{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:42:32Z","timestamp":1762004552309,"version":"3.40.5"},"reference-count":5,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,2,1]]},"abstract":"<jats:p>The presenting symptoms and clinical course of 2 cases of intermittent maple syrup urine disease (MSUD) are described. Intermittent MSUD is a potentially life-threatening metabolic disorder caused by a deficiency of branched-chain \u03b1-keto acid dehydrogenase, the enzyme complex that decarboxylates the 3 branched-chain amino acids. In contrast to classic MSUD, children with the intermittent form show normal development with normal intelligence and, when asymptomatic, normal levels of branched-chain amino acids. Symptoms usually appear between 5 months and 2 years of age, when a trivial infection such as otitis media or viral gastroenteritis triggers catabolism of muscle protein. Intermittent MSUD should be suspected in cases of common infections with a clinically atypical course, especially in children displaying ataxia or marked drowsiness.<\/jats:p>","DOI":"10.1542\/peds.2013-0427","type":"journal-article","created":{"date-parts":[[2014,1,7]],"date-time":"2014-01-07T02:57:06Z","timestamp":1389063426000},"page":"e458-e460","source":"Crossref","is-referenced-by-count":19,"title":["Intermittent Maple Syrup Urine Disease: Two Case Reports"],"prefix":"10.1542","volume":"133","author":[{"given":"Olof","family":"Axler","sequence":"first","affiliation":[{"name":"Department of Clinical Chemistry, University and Regional Laboratories Region Sk\u00e5ne, Sweden; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Holmquist","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Department of Pediatrics, University Hospital Lund, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2014,2,1]]},"reference":[{"issue":"5","key":"2021120823491329600_B1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1542\/peds.14.5.462","article-title":"A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.","volume":"14","author":"Menkes","year":"1954","journal-title":"Pediatrics"},{"issue":"6","key":"2021120823491329600_B2","doi-asserted-by":"crossref","first-page":"1531S","DOI":"10.1093\/jn\/135.6.1531S","article-title":"Brain amino acid requirements and toxicity: the example of leucine [published correction appears in J Nutr. 2005;135(8):2009].","volume":"135","author":"Yudkoff","year":"2005","journal-title":"J Nutr"},{"issue":"2","key":"2021120823491329600_B3","first-page":"414","article-title":"Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.","volume":"52","author":"Fisher","year":"1993","journal-title":"Am J Hum Genet"},{"issue":"4","key":"2021120823491329600_B4","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ymgme.2010.04.017","article-title":"Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.","volume":"100","author":"Brodtkorb","year":"2010","journal-title":"Mol Genet Metab"},{"issue":"2","key":"2021120823491329600_B5","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.ymgme.2009.11.010","article-title":"Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.","volume":"100","author":"Puckett","year":"2010","journal-title":"Mol Genet Metab"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/133\/2\/e458\/1058606\/peds_2013-0427.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/133\/2\/e458\/1058606\/peds_2013-0427.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T18:37:56Z","timestamp":1647887876000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/133\/2\/e458\/30798\/Intermittent-Maple-Syrup-Urine-Disease-Two-Case"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,2,1]]},"references-count":5,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,2,1]]},"published-print":{"date-parts":[[2014,2,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2013-0427","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"type":"print","value":"0031-4005"},{"type":"electronic","value":"1098-4275"}],"subject":[],"published":{"date-parts":[[2014,2,1]]}}}