Maple Syrup Urine Disease
Investigators at University Children's Hospital publish new data on maple syrup urine disease
Published in Genetics and Environmental Business Week, March 13th, 2008
"In maple syrup urine disease (MSUD), disease-causing mutations can affect the BCKDHA, BCKDHB or DBT genes encoding for the E1 alpha, E1 beta and E2 subunits of the multienzyme branched-chain 2-keto acid dehydrogenase (BCKD) complex. The aim of this study was to screen DNA samples of 15 subjects with distinct well-characterized variant MSUD phenotypes for mutations in the three genes in order to demonstrate a potential correlation between specific nucleotide changes and particular variant phenotypes," investigators in Dusseldorf, Germany report.
"The exonic coding sequences of all three genes were studied using genomic DNA and cellular RNA derived from peripheral blood...
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