Article
Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients.
Journal of inherited metabolic disease - 1 Dec 2008
Lee J Y, Chiong M A, Estrada S C, Cutiongco-De la Paz E M, Silao C L T, Padilla C D
Abstract excerpt
Maple syrup urine disease (MSUD) is a very rare disorder of branched-chain amino acid metabolism. However, it is the most common inborn error of metabolism in the Philippines. We present a retrospective review of 21 patients diagnosed with MSUD between 1999 and 2004. The patients presented clinically between 2 and 14 days of life (mean 5 days) and the diagnosis of MSUD was established between 6 days and 11 months...
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