{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T22:46:14Z","timestamp":1782168374967,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T00:00:00Z","timestamp":1629849600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is an autosomal recessive inborn error of amino acid metabolism, with unique clinico\u2010radiological findings. This study aims to show the benefit of using the clinico\u2010radiological findings for early diagnosis of children with MSUD, and confirming this diagnosis using the tandem mass spectrometry (MS\/MS), in order to avoid deleterious outcome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A prospective cohort study conducted in the period from August 2016 to December 2020. Twenty\u2010one children were included either by selective screening or by high\u2010risk screening. All children had clinical and neurodevelopmental evaluation, brain magnetic resonance imaging (MRI) assessment, and blood amino acids analysis at diagnosis. Patients were followed clinically.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Most children had acute onsets neuro\u2010developmental symptoms, with wide range of brain parenchyma involvement on MRI (hyperintensity). Diagnosis of MSUD was confirmed by detecting high serum levels of leucine\/isoleucine (mean value 2085.5\u00a0\u03bcmol\/L) in all patients, and elevated levels of serum valine in (81%) of children. In addition, all children showed elevated leucine: alanine ratio, and leucine: phenylalanine ratio.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The characteristic clinico\u2010radiological features can help in the early diagnosis of MSUD children, thus preventing the delay in laboratory diagnosis and improving their outcomes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1790","type":"journal-article","created":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T13:04:49Z","timestamp":1629896689000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The clinico\u2010radiological findings of MSUD in a group of Egyptian children: Contribution to early diagnosis and outcome"],"prefix":"10.1002","volume":"9","author":[{"given":"Montaser M.","family":"Mohamed","sequence":"first","affiliation":[{"name":"Pediatric Neurology Unit Department of Pediatrics Faculty of Medicine Sohag University Sohag Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed A.","family":"Bakheet","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit Department of Pediatrics Faculty of Medicine Sohag University Sohag Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rofaida M.","family":"Magdy","sequence":"additional","affiliation":[{"name":"Metabolic and Genetic Unit Department of Pediatrics Faculty of Medicine Sohag University Sohag Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba S.","family":"El\u2010Abd","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Faculty of Medicine Ain Shams University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad Hasan","family":"Alam\u2010Eldeen","sequence":"additional","affiliation":[{"name":"Department of Radiology Faculty of Medicine Sohag University Sohag Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1343-9031","authenticated-orcid":false,"given":"Hany M.","family":"Abo\u2010Haded","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Unit Department of Pediatrics Faculty of Medicine Mansoura University Mansoura Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,8,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S125962"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.5152\/dir.2017.16466"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.18410\/jebmh\/2020\/210"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.4103\/0972-2327.132638"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-003-1058-7"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/0969141315618229"},{"key":"e_1_2_12_8_1","first-page":"1582","article-title":"Brain MRI and clinical characteristics of maple syrup urine disease","volume":"10","author":"Hou L.","year":"2016","journal-title":"Shiyong Fangshe Xue Zazhi"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/1817-1745.111419"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.4103\/2249-4847.116411"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-003-0955-7"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2015.10.002"},{"issue":"1","key":"e_1_2_12_13_1","doi-asserted-by":"crossref","first-page":"103","DOI":"10.4103\/JPN.JPN_38_17","article-title":"Imaging findings in maple syrup urine disease: A case report","volume":"13","author":"Kathait A. 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