Maple syrup urine disease (MSUD)—Clinical profile of 47 Filipino patients

  title={Maple syrup urine disease (MSUD)—Clinical profile of 47 Filipino patients},
  author={Ja Young J Lee and M. A. Chiong and Sylvia C. Estrada and Eva Maria C. Cutiongco-de la Paz and Catherine lynn T. Silao and Consuelo Lopez de Padilla},
  journal={Journal of Inherited Metabolic Disease},
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 of age (mean 39 days). The classical burnt sugar odour was noted in the majority… CONTINUE READING


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