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Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD)

✍ Scribed by Yue-Ping Wang; Man-Long Qi; Ting-Ting Li; Yun-Jing Zhao

Book ID
116508739
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
945 KB
Volume
498
Category
Article
ISSN
0378-1119

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Identification of three novel mutations
Identification of three novel mutations by studying the molecular genetics of Maple Syrup Urine Disease (MSUD) in the Lebanese population
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Maple Syrup Urine Disease (MSUD) is a genetically heterogeneous metabolic disorder that is transmitted in an autosomal recessive manner. According to clinical data, MSUD prevalence in Lebanon is expected to be higher than the International prevalence because of consanguineous marriage. Novel mutatio

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A nonsense mutation (R242X) in the branched-chain Ξ±-keto acid dehydrogenase E1Ξ± subunit gene (BCKDHA) as a cause of maple syrup urine disease
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Mutation analysis of DNA from cultured amniocytes with absent branched-chain -ketoacid dehydrogenase activity revealed a C to T transition producing a nonsense mutation (R242X) in exon 7 of the gene encoding the E1 subunit of this multienzyme complex (BCKDHA). This pregnancy occured in a large consa