{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T22:46:11Z","timestamp":1782168371997,"version":"3.54.5"},"reference-count":15,"publisher":"Mathematical Modelling and Numerical Simulation with Applications","issue":"02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by mutations in any of the genes encoding for the branched-chain keto dehydrogenase (BCKDH) components. This study screened MSUD patients throughout the whole Upper Egypt describing their symptoms, clinical and laboratory findings, genetic studies, and their treatment, with a 6-month follow-up for their responses. Screening identified three children with MSUD. Homozygous mutation in R195Q single nucleotide polymorphism (SNP) within the BCKDHA gene was found with the second MSUD patient. Follow-up for 6 months to assess the treatment regimens and progression of cases demonstrated that early treatment regimens including a dietary restriction of branched-chain amino acids with L-Carnitine administration could prevent MSUD-associated intellectual disabilities. It was concluded that R195Q SNP is pathogenic, and it may cause inherited forms of MSUD in some patients. MSUD cases have rarely been reported; so these findings will be highly useful for future cases of MSUD in the Upper Egyptian population.<\/jats:p>","DOI":"10.1055\/s-0040-1715111","type":"journal-article","created":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T18:54:40Z","timestamp":1597085680000},"page":"116-125","source":"Crossref","is-referenced-by-count":3,"title":["Clinical, Biochemical, Molecular, and Therapeutic Analysis of Maple Syrup Urine Disease in Upper Egypt"],"prefix":"10.53391","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6007-5691","authenticated-orcid":false,"given":"Marwa A.","family":"Dahpy","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Assiut University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahia H.","family":"Saleem","sequence":"additional","affiliation":[{"name":"Department of Medical Biochemistry and Molecular Biology, Faculty of Medicine, Assiut University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osama M.","family":"El-Asheer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed Abd","family":"ELrasoul","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Pharmacy, Assiut University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0691-8686","authenticated-orcid":false,"given":"Amir M.","family":"Abo Elgeit","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2020,8,10]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1007\/s00726-009-0305-0","article-title":"Plasma and urine amino acid pattern in preterm infants on enteral nutrition: impact of gestational age","volume":"38","author":"S Illsinger","year":"2010","journal-title":"Amino Acids"},{"issue":"03","key":"ref2","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.pedneo.2013.09.009","article-title":"Different gene preferences of maple syrup urine disease in the aboriginal tribes of Taiwan","volume":"55","author":"J W Hou","year":"2014","journal-title":"Pediatr Neonatol"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S1096-7192(03)00144-6","article-title":"Relationship of causative genetic mutations in maple syrup urine disease with their clinical 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